ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1013C>G (p.Thr338Arg)

dbSNP: rs2144446765
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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 RCV002010658 SCV002290530 uncertain significance Juvenile polyposis syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 338 of the SMAD4 protein (p.Thr338Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMAD4-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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