ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu)

dbSNP: rs1595756540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794314 SCV000933714 uncertain significance Aortic valve disease 2 2023-08-14 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. 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. ClinVar contains an entry for this variant (Variation ID: 641141). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 57 of the SMAD6 protein (p.Arg57Leu).

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