ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1031G>T (p.Gly344Val)

dbSNP: rs2140681275
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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 RCV001964097 SCV002255677 uncertain significance Aortic valve disease 2 2020-11-17 criteria provided, single submitter clinical testing 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 SMAD6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 344 of the SMAD6 protein (p.Gly344Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. 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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