ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Counsyl RCV000203407 SCV000796925 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV000203407 SCV001245292 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 105 of the MUT protein (p.Trp105Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the homozygous and compound heterozygous state in individuals affected with methylmalonic aciduria (PMID: 1977311, 16281286). ClinVar contains an entry for this variant (Variation ID: 1878). This variant has been reported to affect MUT protein function (PMID: 1977311). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001955 SCV000022113 pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE 1990-11-01 no assertion criteria provided literature only
GeneReviews RCV000203407 SCV000258494 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only

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