ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2672G>T (p.Ser891Ile)

dbSNP: rs1560424985
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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 RCV000702012 SCV000830839 uncertain significance Gastrointestinal stromal tumor 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 891 of the KIT protein (p.Ser891Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KIT-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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