ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2755C>A (p.Gln919Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002439412 SCV002751994 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter clinical testing The p.Q919K variant (also known as c.2755C>A), located in coding exon 20 of the KIT gene, results from a C to A substitution at nucleotide position 2755. The glutamine at codon 919 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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