ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1597C>T (p.Leu533Phe)

dbSNP: rs377767381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230326 SCV000543741 uncertain significance Juvenile polyposis syndrome 2016-10-26 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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 is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SMAD4-related disease. This sequence change replaces leucine with phenylalanine at codon 533 of the SMAD4 protein (p.Leu533Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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