ClinVar Miner

Variants with conflicting interpretations studied for Propionyl-CoA carboxylase deficiency

Coded as:
Minimum review status of the submission for Propionyl-CoA carboxylase deficiency: Y axis collection method of the submission for Propionyl-CoA carboxylase deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
180 24 11 34 15 0 7 58

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
Propionyl-CoA carboxylase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 9 16 3 1 1
likely pathogenic 23 0 0 0 0
uncertain significance 3 3 0 13 2
likely benign 1 2 8 0 7
benign 1 0 2 7 2

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Propionyl-CoA carboxylase deficiency 213 15 11 19 7 0 3 34
not specified 0 5 0 12 9 0 1 20
not provided 0 9 1 10 2 0 4 17
Global developmental delay; Hyperammonemia 0 0 0 0 2 0 0 2

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_000282.3(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.3(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.3(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.3(PCCA):c.1284+1G>A rs752761437
NM_000282.3(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.3(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.3(PCCA):c.1429+7A>G rs16957276
NM_000282.3(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.3(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.3(PCCA):c.1747-1G>C rs879253803
NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.3(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.3(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.3(PCCA):c.2040+11dupT rs779884567
NM_000282.3(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.3(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.3(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.3(PCCA):c.231+15C>T rs202049874
NM_000282.3(PCCA):c.300+20G>T rs371217257
NM_000282.3(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.3(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.3(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.3(PCCA):c.722delG (p.Gly241Valfs) rs745571507
NM_000282.3(PCCA):c.775_779delCTAAT (p.Leu259Argfs) rs794726976
NM_000282.3(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.3(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.3(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.3(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000532.4(PCCB):c.-37C>T rs145734157
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA (p.Gly407Argfs) rs397507445
NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.4(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.4(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.4(PCCB):c.1398+1G>T rs794727092
NM_000532.4(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.4(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.4(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.4(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.4(PCCB):c.1539_1540insCCC (p.Ala513_Arg514insPro) rs202247821
NM_000532.4(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.4(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.4(PCCB):c.183+5G>A rs879253813
NM_000532.4(PCCB):c.184-12G>T rs181283691
NM_000532.4(PCCB):c.184-1G>A rs886044246
NM_000532.4(PCCB):c.372+2T>C rs879253814
NM_000532.4(PCCB):c.429+7G>A rs201986472
NM_000532.4(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.4(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.4(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.4(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.4(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.4(PCCB):c.763+10C>G rs180982841
NM_000532.4(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.4(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.4(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.4(PCCB):c.942C>A (p.Tyr314Ter) rs572246667

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