ClinVar Miner

Submissions for variant NM_001734.5(C1S):c.106G>C (p.Val36Leu)

dbSNP: rs2135721100
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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 RCV002048887 SCV002310303 uncertain significance not provided 2021-10-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with C1S-related conditions. 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. This sequence change replaces valine with leucine at codon 36 of the C1S protein (p.Val36Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.

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