ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.469C>G (p.Pro157Ala)

dbSNP: rs1276125047
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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 RCV000818552 SCV000959171 uncertain significance Gastrointestinal stromal tumor 2018-11-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KIT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 157 of the KIT protein (p.Pro157Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. 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: "Benign"; Align-GVGD: "Class C25").

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