ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2841_2842del (p.Lys948fs)

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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 RCV003525697 SCV004260579 uncertain significance Gastrointestinal stromal tumor 2023-12-31 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the KIT gene (p.Lys948Alafs*100). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the KIT protein and extend the protein by 70 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individual(s) with clinical features of piebaldism (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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