ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)

gnomAD frequency: 0.00003  dbSNP: rs773828910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233983 SCV000283936 uncertain significance Gastrointestinal stromal tumor 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 961 of the KIT protein (p.Gly961Ser). This variant is present in population databases (rs773828910, gnomAD 0.005%). 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: 237271). 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.
Fulgent Genetics, Fulgent Genetics RCV000764549 SCV000895635 uncertain significance Gastrointestinal stromal tumor; Mastocytosis; Piebaldism; Malignant tumor of testis; Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433949 SCV002747116 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-06 criteria provided, single submitter clinical testing The p.G961S variant (also known as c.2881G>A), located in coding exon 21 of the KIT gene, results from a G to A substitution at nucleotide position 2881. The glycine at codon 961 is replaced by serine, an amino acid with similar 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.
Kopetz Lab, MD Anderson Cancer Center RCV000509029 SCV000606821 drug response Regorafenib response 2017-03-08 no assertion criteria provided clinical testing

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