ClinVar Miner

Variants with conflicting interpretations studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Coded as:
Minimum review status of the submission for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency: Y axis collection method of the submission for Methylmalonic aciduria due to methylmalonyl-CoA mutase 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
125 54 0 21 4 0 3 25

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
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 13 3 0 0
likely pathogenic 16 0 2 0 0
uncertain significance 1 1 0 0 0
likely benign 0 0 4 0 1
benign 0 0 1 4 0

Condition to condition summary #

Total conditions: 5
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
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 158 33 0 13 0 0 1 13
not provided 0 26 0 8 2 0 1 11
Methylmalonic acidemia 0 23 0 3 3 0 0 6
not specified 0 6 0 2 0 0 1 3
METHYLMALONIC ACIDURIA, mut(0) TYPE 0 7 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1032_1034TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002

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