ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1357T>G (p.Ser453Ala)

dbSNP: rs1722183922
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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 RCV001042251 SCV001205924 uncertain significance Gastrointestinal stromal tumor 2019-05-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 453 of the KIT protein (p.Ser453Ala). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and alanine. This variant has not been reported in the literature in individuals with KIT-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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