ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1587A>C (p.Leu529Phe)

dbSNP: rs2144479233
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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 RCV001939706 SCV002175700 uncertain significance Juvenile polyposis syndrome 2021-07-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SMAD4-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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 529 of the SMAD4 protein (p.Leu529Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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