ClinVar Miner

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

dbSNP: rs121918254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673187 SCV000798362 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV003558522 SCV004293679 pathogenic not provided 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MUT protein function. ClinVar contains an entry for this variant (Variation ID: 557096). This missense change has been observed in individual(s) with methylmalonic acidemia (PMID: 7909321, 15643616, 16281286, 19375370). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 623 of the MUT protein (p.Gly623Arg).

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