ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.477G>C (p.Lys159Asn)

dbSNP: rs1909795479
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232707 SCV001405275 uncertain significance Generalized juvenile polyposis/juvenile polyposis coli 2019-10-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 159 of the SMAD4 protein (p.Lys159Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. 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: "Possibly 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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