ClinVar Miner

Submissions for variant NM_000066.4(C8B):c.1043C>T (p.Ala348Val)

gnomAD frequency: 0.00002  dbSNP: rs369565521
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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 RCV001915148 SCV002176788 uncertain significance not provided 2021-02-20 criteria provided, single submitter clinical testing 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 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"). This variant has not been reported in the literature in individuals with C8B-related conditions. This variant is present in population databases (rs369565521, ExAC 0.004%). This sequence change replaces alanine with valine at codon 348 of the C8B protein (p.Ala348Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.

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