ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.650C>T (p.Ser217Phe)

dbSNP: rs1163691210
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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 RCV000697830 SCV000826461 uncertain significance Gastrointestinal stromal tumor 2018-02-24 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 217 of the KIT protein (p.Ser217Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KIT-related disease. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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