ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.247G>C (p.Asp83His)

dbSNP: rs1485157465
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301558 SCV001490730 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 83 of the MCCC1 protein (p.Asp83His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MCCC1-related conditions.

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