ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.2866C>T (p.Arg956Trp) (rs587778433)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000121320 SCV000085491 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000458514 SCV000550077 uncertain significance Gastrointestinal stroma tumor 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 956 of the KIT protein (p.Arg956Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs587778433, ExAC 0.01%). This variant has not been reported in the literature in individuals with a KIT-related disease. ClinVar contains an entry for this variant (Variation ID: 134627). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on KIT function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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