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: Y axis 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 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
14 14 4 15 19 0 7 37

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 4 5 4 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 2 2 0 17 13
likely benign 0 0 0 0 8
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 12
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
Progressive sclerosing poliodystrophy 0 8 0 7 16 0 4 27
not specified 0 2 0 7 16 0 1 24
not provided 0 12 0 8 2 0 5 13
Seizures 0 7 0 4 4 0 0 8
Fanconi anemia 0 11 0 4 1 0 0 5
Cerebellar ataxia infantile with progressive external ophthalmoplegia 0 1 2 1 0 0 0 3
Mitochondrial diseases 0 2 0 3 0 0 0 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 1 1 1 0 0 1 2
Mitochondrial DNA depletion syndrome 0 0 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 0 0 1 1 0 0 0 1
POLG-Related Spectrum Disorders 63 1 0 1 0 0 0 1
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_002693.2(POLG):c.1386G>A (p.Ser462=) rs62640034
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1585+11T>C rs201566815
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1887C>T (p.Asp629=) rs886051524
NM_002693.2(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2071-14T>G rs150088708
NM_002693.2(POLG):c.2157+11C>T rs56411159
NM_002693.2(POLG):c.2157+15G>A rs766521182
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2481-10A>C rs555280530
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2601T>C (p.Pro867=) rs201749977
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3273+6T>A rs886051522
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.3549C>T (p.Val1183=) rs777231247
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.