ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2805_2806delinsAC (p.Tyr936His)

dbSNP: rs2109818111
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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 RCV002023266 SCV002305350 uncertain significance Gastrointestinal stromal tumor 2023-04-25 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1512908). This variant has not been reported in the literature in individuals affected with KIT-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 936 of the KIT protein (p.Tyr936His).

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