ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.382C>T (p.Leu128Phe)

dbSNP: rs1567091533
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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 RCV001368296 SCV001564685 uncertain significance Aortic valve disease 2 2018-01-24 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SMAD6-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces leucine with phenylalanine at codon 128 of the SMAD6 protein (p.Leu128Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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