ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.521T>C (p.Phe174Ser)

gnomAD frequency: 0.00001  dbSNP: rs864309733
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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 RCV001853274 SCV002162688 pathogenic not provided 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 174 of the MUT protein (p.Phe174Ser). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 218986). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 10923046, 16281286, 26615597, 27167370).
GeneReviews RCV000203368 SCV000258496 not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion provided literature only

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