ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser)

dbSNP: rs864309737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556257 SCV004293687 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 218993). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 expected to disrupt MUT protein function. This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 17113806). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 366 of the MUT protein (p.Asn366Ser).
GeneReviews RCV000203385 SCV000258508 not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion provided literature only

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