ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.425_426delinsTT (p.Ser142Ile)

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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 RCV003850269 SCV004653662 uncertain significance Aortic valve disease 2 2023-06-10 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 142 of the SMAD6 protein (p.Ser142Ile). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.

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