ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)

gnomAD frequency: 0.00001  dbSNP: rs864309736
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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 RCV001853275 SCV002310067 likely pathogenic not provided 2021-05-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 231 of the MUT protein (p.Tyr231Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency (PMID: 17957493, 17113806). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 218992). Experimental studies have shown that this variant affects MUT protein function (PMID: 25125334, 9285782). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneReviews RCV000203354 SCV000258507 not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion provided literature only

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