ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1272C>T (p.Gly424=)

dbSNP: rs1553891012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541057 SCV000630411 uncertain significance Gastrointestinal stromal tumor 2022-01-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 458864). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 424 of the KIT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KIT protein.
PreventionGenetics, part of Exact Sciences RCV003403264 SCV004104284 uncertain significance KIT-related disorder 2023-02-09 criteria provided, single submitter clinical testing The KIT c.1272C>T variant is not predicted to result in an amino acid change (p.=). This variant may enhance a cryptic splice site according to available splicing in silico algorithms. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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