ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2839C>T (p.Gln947Ter)

dbSNP: rs1060502558
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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 RCV000457864 SCV000550100 uncertain significance Gastrointestinal stromal tumor 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln947*) in the KIT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the KIT protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KIT-related conditions. ClinVar contains an entry for this variant (Variation ID: 409760). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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