ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1403C>T (p.Pro468Leu) (rs200518498)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034503 SCV000043280 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Invitae RCV000543221 SCV000630417 uncertain significance Gastrointestinal stroma tumor 2018-06-08 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 468 of the KIT protein (p.Pro468Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KIT-related disease. ClinVar contains an entry for this variant (Variation ID: 41598). 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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