ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793518 SCV000932874 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 316 of the MUT protein (p.Tyr316Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs781474200, ExAC 0.002%). This variant has been observed in combination with another MUT variant in multiple individuals affected with methylmalonic acidemia (PMID: 16281286, Invitae). Experimental studies have been performed for this missense variant, but its effect on MUT protein function remains unclear (PMID: 25125334). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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