Variants with conflicting interpretations studied for Autosomal recessive DOPA responsive dystonia

Minimum review status of the submission for Autosomal recessive DOPA responsive dystonia:		Collection method of the submission for Autosomal recessive DOPA responsive dystonia:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
858	121	0	44	52	0	23	109

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Autosomal recessive DOPA responsive dystonia		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	34	14	0	0
	likely pathogenic	34	0	18	0	0
	uncertain significance	14	18	0	50	3
	likely benign	0	0	50	0	10
	benign	0	0	3	10	0

Condition to condition summary #

Total conditions: 1

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Autosomal recessive DOPA responsive dystonia	858	121	0	44	52	0	23	109

All variants with conflicting interpretations #

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1401C>T (p.Asp467=)	rs3842724	0.02616
NM_000360.4(TH):c.1278G>A (p.Thr426=)	rs36097848	0.01234
NM_000360.4(TH):c.1200+9C>T	rs11564717	0.01045
NM_000360.4(TH):c.684G>A (p.Glu228=)	rs11564716	0.00706
NM_000360.4(TH):c.16G>A (p.Ala6Thr)	rs74555599	0.00462
NM_000360.4(TH):c.267G>A (p.Arg89=)	rs76240471	0.00359
NM_000360.4(TH):c.1398C>T (p.Ile466=)	rs118175546	0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=)	rs76719766	0.00054
NM_000360.4(TH):c.363G>A (p.Pro121=)	rs370429316	0.00042
NM_000360.4(TH):c.1255G>A (p.Val419Met)	rs184106392	0.00034
NM_000360.4(TH):c.67G>A (p.Ala23Thr)	rs201081519	0.00028
NM_000360.4(TH):c.627C>G (p.Ile209Met)	rs202149985	0.00027
NM_000360.4(TH):c.594G>T (p.Val198=)	rs544661832	0.00026
NM_000360.4(TH):c.1368C>T (p.Ser456=)	rs45538536	0.00023
NM_000360.4(TH):c.12C>T (p.Pro4=)	rs147131010	0.00022
NM_000360.4(TH):c.679G>A (p.Glu227Lys)	rs536382000	0.00017
NM_000360.4(TH):c.585G>A (p.Ser195=)	rs376615793	0.00016
NM_000360.4(TH):c.1383G>A (p.Pro461=)	rs552808212	0.00011
NM_000360.4(TH):c.91-828C>T	rs764689284	0.00011
NM_000360.4(TH):c.126C>A (p.Ile42=)	rs755664117	0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=)	rs370029424	0.00010
NM_000360.4(TH):c.51C>T (p.Ala17=)	rs199645400	0.00009
NM_000360.4(TH):c.685A>T (p.Ile229Phe)	rs778613708	0.00008
NM_000360.4(TH):c.252G>A (p.Leu84=)	rs758016812	0.00007
NM_000360.4(TH):c.1228C>A (p.Arg410=)	rs575326605	0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu)	rs150260759	0.00006
NM_000360.4(TH):c.1317C>T (p.Asp439=)	rs375440221	0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met)	rs1800033	0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=)	rs777477661	0.00004
NM_000360.4(TH):c.91-818G>A	rs753403788	0.00004
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)	rs771351747	0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=)	rs771152796	0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=)	rs558597025	0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln)	rs201093528	0.00003
NM_000360.4(TH):c.90+13G>A	rs77140743	0.00003
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)	rs1264884607	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=)	rs375735482	0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=)	rs773288225	0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter)	rs1057519220	0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=)	rs761868828	0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg)	rs755536257	0.00002
NM_199292.3(TH):c.-71C>T	rs549435434	0.00002
NM_000360.4(TH):c.1077G>A (p.Ser359=)	rs759797905	0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met)	rs1057520384	0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=)	rs768695630	0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=)	rs367962981	0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=)	rs145628270	0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr)	rs201932766	0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=)	rs1239693053	0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=)	rs531554933	0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=)	rs1217513263	0.00001
NM_000360.4(TH):c.576+10G>A	rs775488025	0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu)	rs139474171	0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys)	rs1021029193	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=)	rs774810612	0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=)	rs1437906953	0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro)	rs28934581	0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=)	rs138787428	0.00001
NM_000360.4(TH):c.841+12C>T	rs368489295	0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met)	rs121917764	0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser)	rs1288483479	0.00001
NM_000360.4(TH):c.977+9G>C	rs752199740	0.00001
NC_000011.10:g.2171856C>T	rs1372180906
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)	rs2133692289
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	rs1590166832
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	rs1554922725
NM_000360.4(TH):c.1105-5C>G	rs535794692
NM_000360.4(TH):c.1118C>T (p.Thr373Met)	rs868563700
NM_000360.4(TH):c.1119G>A (p.Thr373=)	rs143405115
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter)	rs2133690417
NM_000360.4(TH):c.1125del (p.Glu375fs)	rs2133690407
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1170C>G (p.Ala390=)	rs199839852
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)	rs1554922593
NM_000360.4(TH):c.120C>T (p.Ser40=)	rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=)	rs1590165298
NM_000360.4(TH):c.1227T>C (p.Ile409=)	rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	rs786204540
NM_000360.4(TH):c.1287A>C (p.Ser429=)	rs1590165106
NM_000360.4(TH):c.12C>A (p.Pro4=)	rs147131010
NM_000360.4(TH):c.12dup (p.Asp5fs)	rs1057516716
NM_000360.4(TH):c.1335-1G>A	rs1554922200
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)	rs564949885
NM_000360.4(TH):c.202C>T (p.Leu68=)	rs372393199
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.583del (p.Ser195fs)
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.711del (p.Thr238fs)
NM_000360.4(TH):c.714_715del (p.Leu239fs)	rs1564918287
NM_000360.4(TH):c.724C>T (p.Leu242Phe)	rs1457094087
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.81G>T (p.Glu27Asp)	rs139742336
NM_000360.4(TH):c.90+10C>T	rs1554924321
NM_000360.4(TH):c.90+13G>T	rs77140743
NM_000360.4(TH):c.90+7dup	rs780485650
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.951G>A (p.Ala317=)	rs1590167106
NM_000360.4(TH):c.978-6G>A	rs75487597
NM_000360.4(TH):c.983G>T (p.Cys328Phe)	rs121917765

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