ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) (rs748622672)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231880 SCV000288924 uncertain significance Aortic valve disease 2 2016-01-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 161 of the SMAD6 protein (p.Ala161Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs748622672, ExAC 0.03%) but has not been reported in the literature in individuals with a SMAD6-related disease. 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. However, algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing. These predictions have not been confirmed by published functional or transcriptional studies. In summary, this is a rare missense change with uncertain impact on protein function and mRNA splicing. It has been classified as a Variant of Uncertain Significance.

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