ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)

gnomAD frequency: 0.00002  dbSNP: rs587778433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458514 SCV000550077 uncertain significance Gastrointestinal stromal tumor 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 956 of the KIT protein (p.Arg956Trp). This variant is present in population databases (rs587778433, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KIT-related conditions. ClinVar contains an entry for this variant (Variation ID: 134627). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV001016829 SCV001177827 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing The p.R956W variant (also known as c.2866C>T), located in coding exon 21 of the KIT gene, results from a C to T substitution at nucleotide position 2866. The arginine at codon 956 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483219 SCV002787372 uncertain significance Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis 2021-08-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000458514 SCV004190371 uncertain significance Gastrointestinal stromal tumor 2023-07-11 criteria provided, single submitter clinical testing
ITMI RCV000121320 SCV000085491 not provided not specified 2013-09-19 no assertion provided reference population

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