ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.757A>G (p.Thr253Ala)

dbSNP: rs765944197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530052 SCV000630522 uncertain significance Gastrointestinal stromal tumor 2023-05-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs765944197, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 253 of the KIT protein (p.Thr253Ala). ClinVar contains an entry for this variant (Variation ID: 458970). 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 alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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