ClinVar Miner

Variants with conflicting interpretations studied for POLG-Related Spectrum Disorders

Coded as:
Minimum review status of the submission for POLG-Related Spectrum Disorders: Collection method of the submission for POLG-Related Spectrum Disorders:
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 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
35 30 0 30 43 0 16 78

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
POLG-Related Spectrum Disorders pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 5 0 0
likely pathogenic 3 0 6 0 0
uncertain significance 2 6 0 39 23
likely benign 0 0 1 0 17
benign 0 0 1 4 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
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
not provided 0 35 0 26 29 0 14 62
not specified 0 12 0 16 28 0 0 44
POLG-related disorder 0 10 0 5 20 0 0 25
Tip-toe gait 0 2 0 2 1 0 3 6
POLG-Related Spectrum Disorders 137 5 0 1 0 0 0 1
Spinocerebellar atrophy 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2071-14T>G rs150088708 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) rs3176179 0.00015
NM_002693.3(POLG):c.2157+11C>T rs56411159 0.00014
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_002693.3(POLG):c.87C>T (p.Ser29=) rs587781116 0.00011
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_002693.3(POLG):c.2157+15G>A rs766521182 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.1311C>T (p.Val437=) rs62640035 0.00005
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.3549C>T (p.Val1183=) rs777231247 0.00002
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp) rs754246294 0.00001
NM_002693.3(POLG):c.1887C>T (p.Asp629=) rs886051524 0.00001
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00001
NM_002693.3(POLG):c.2040G>A (p.Leu680=) rs367740265 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.425T>C (p.Leu142Pro) rs1064797202 0.00001
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.*49dup rs3087377
NM_002693.3(POLG):c.-200del rs150780058
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.1629C>T (p.Val543=) rs56349446
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437

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