ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)

dbSNP: rs879253833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000236822 SCV000262790 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
3billion RCV000236822 SCV002058519 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MMUT related disorder (ClinVar ID: VCV000222918, PMID:27167370). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 27167370, PS3_S). A different missense change at the same codon has been reported to be associated with MMUT related disorder (PMID:15781199, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.942, 3CNET: 0.881, PP3_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV002273989 SCV002559529 likely pathogenic not provided 2022-08-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25736335, 29034175, 27167370, 32754920)

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