ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2132A>G (p.Glu711Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003469886 SCV004190374 uncertain significance Gastrointestinal stromal tumor 2023-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364775 SCV005033129 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-25 criteria provided, single submitter clinical testing The p.E711G variant (also known as c.2132A>G), located in coding exon 14 of the KIT gene, results from an A to G substitution at nucleotide position 2132. The glutamic acid at codon 711 is replaced by glycine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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