ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) (rs121918254)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427444 SCV000520995 pathogenic not provided 2019-11-20 criteria provided, single submitter clinical testing Reported to be a common variant in individuals of African descent and functional analysis of G623R found that it is associated with significantly reduced enzyme activity compared to wild-type (Worgan et al., 2006; Janata et al., 1997).; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 15643616, 7909321, 19375370, 17113806, 31525265, 25087612, 9285782, 8990001, 16281286)
OMIM RCV000001961 SCV000022119 pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE 1994-04-01 no assertion criteria provided literature only
GeneReviews RCV000203390 SCV000258505 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only
Counsyl RCV000203390 SCV001132252 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-03-17 no assertion criteria provided clinical testing
Natera, Inc. RCV001276633 SCV001463085 pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-09-16 no assertion criteria provided clinical testing

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