ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.748_749delinsGC (p.Phe250Ala)

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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 RCV002585153 SCV003490635 uncertain significance Aortic valve disease 2 2022-02-06 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 250 of the SMAD6 protein (p.Phe250Ala).

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