ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)

dbSNP: rs2128415147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368193 SCV001564576 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-02-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1058992). This variant has not been reported in the literature in individuals affected with SERAC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 311 of the SERAC1 protein (p.Cys311Arg). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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