ClinVar Miner

Variants with conflicting interpretations studied for Mitochondrial DNA depletion syndrome

Coded as:
Minimum review status of the submission for Mitochondrial DNA depletion syndrome: Y axis collection method of the submission for Mitochondrial DNA depletion syndrome:
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
77 153 0 16 16 0 2 34

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
Mitochondrial DNA depletion syndrome pathogenic uncertain significance likely benign benign
likely pathogenic 1 1 0 0
uncertain significance 0 0 8 9
likely benign 1 1 0 14
benign 0 0 1 0

Condition to condition summary #

Total conditions: 8
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
not specified 0 16 0 14 15 0 0 29
not provided 0 20 0 7 3 0 1 11
Mitochondrial DNA depletion syndrome 2 0 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 0 1 0 1 0 0 0 1
POLG-Related Spectrum Disorders 0 0 0 0 0 0 1 1
Perrault syndrome 5 0 0 0 0 0 0 1 1
Progressive sclerosing poliodystrophy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_002437.4(MPV17):c.27G>T (p.Arg9=) rs35244252
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_003849.3(SUCLG1):c.-39C>G rs144946502
NM_003849.3(SUCLG1):c.201+9A>G rs116492610
NM_003849.3(SUCLG1):c.202-4T>C rs141973418
NM_003849.3(SUCLG1):c.345T>C (p.Ala115=) rs374594774
NM_003849.3(SUCLG1):c.590-6G>A rs200107730
NM_003849.3(SUCLG1):c.900C>T (p.Ala300=) rs113840224
NM_003849.3(SUCLG1):c.98-13_98-11delTTT rs56733272
NM_003850.2(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559
NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645
NM_003850.2(SUCLA2):c.1350G>A (p.Ala450=) rs144969057
NM_003850.2(SUCLA2):c.21C>T (p.Tyr7=) rs374479008
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_003850.2(SUCLA2):c.272-13G>C rs367890526
NM_003850.2(SUCLA2):c.510A>G (p.Ala170=) rs35568795
NM_003850.2(SUCLA2):c.789T>C (p.Asp263=) rs57270175
NM_003850.2(SUCLA2):c.811A>G (p.Met271Val) rs142020748
NM_004614.4(TK2):c.156+15T>C rs80083556
NM_004614.4(TK2):c.157-12G>A rs117229729
NM_004614.4(TK2):c.416C>T (p.Ala139Val) rs281865494
NM_004614.4(TK2):c.700-13G>A rs16956600
NM_004614.4(TK2):c.94C>T (p.Arg32Trp) rs200121712
NM_015713.4(RRM2B):c.*11G>A rs29000285
NM_021830.4(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.4(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.4(TWNK):c.1735-14C>A rs201795189
NM_021830.4(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_080916.2(DGUOK):c.-48G>A rs10186730
NM_080916.2(DGUOK):c.123C>G (p.Leu41=) rs145252858
NM_080916.2(DGUOK):c.159G>A (p.Thr53=) rs62641680
NM_080916.2(DGUOK):c.423G>A (p.Glu141=) rs1804599
NM_080916.2(DGUOK):c.705G>A (p.Thr235=) rs866403196
NM_080916.2(DGUOK):c.708-3T>C rs370071744

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