ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1568C>T (p.Thr523Ile)

dbSNP: rs772866513
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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 RCV000227249 SCV000283908 uncertain significance Gastrointestinal stromal tumor 2023-03-09 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. 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. ClinVar contains an entry for this variant (Variation ID: 237246). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs772866513, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 523 of the KIT protein (p.Thr523Ile).

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