ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) (rs121918249)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203407 SCV000796925 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000374459 SCV000329429 pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing The W105R variant has previously been reported in association with methylmalonic acidemia (MMA) in several unrelated individuals who were homozygous for W105R or heterozygous for W105R and a second variant in the MUT gene (Jansen et al., 1990; Worgan et al., 2006). Functional analysis found that W105R is associated with no detectable enzyme activity (Jansen et al., 1990). Therefore, we interpret W105R to be a pathogenic variant.
GeneReviews RCV000203407 SCV000258494 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only
OMIM RCV000001955 SCV000022113 pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE 1990-11-01 no assertion criteria provided literature only

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