ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1312A>G (p.Ile438Val)

gnomAD frequency: 0.00001  dbSNP: rs780382854
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695498 SCV000824003 uncertain significance Gastrointestinal stromal tumor 2023-03-22 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 573755). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs780382854, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 438 of the KIT protein (p.Ile438Val).
Ambry Genetics RCV002386216 SCV002694438 likely benign Hereditary cancer-predisposing syndrome 2024-04-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153808 SCV003843457 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000695498 SCV004190408 uncertain significance Gastrointestinal stromal tumor 2023-05-10 criteria provided, single submitter clinical testing

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