ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)

dbSNP: rs775593146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725410 SCV000336766 likely pathogenic not provided 2015-11-25 criteria provided, single submitter clinical testing
Invitae RCV000725410 SCV003299598 pathogenic not provided 2022-11-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs775593146, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects MUT function (PMID: 25125334). 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 not expected to disrupt MUT protein function. ClinVar contains an entry for this variant (Variation ID: 284235). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 16281286). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 573 of the MUT protein (p.Phe573Ser).
Counsyl RCV000378555 SCV000793376 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-15 no assertion criteria provided clinical testing

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