ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) (rs121918248)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203362 SCV000792798 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV000203362 SCV001228047 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln18*) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121918248, ExAC 0.003%). This variant has been observed in individual(s) with methylmalonic aciduria (PMID: 16281286, 1970180). ClinVar contains an entry for this variant (Variation ID: 1877). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001954 SCV000022112 pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE 1987-03-01 no assertion criteria provided literature only
GeneReviews RCV000203362 SCV000258490 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-12-01 no assertion criteria provided literature only mut(0) enzymatic subtype when homozygous

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