ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2884C>A (p.Leu962Met)

dbSNP: rs2465973466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003310320 SCV003999696 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-03 criteria provided, single submitter clinical testing The p.L962M variant (also known as c.2884C>A), located in coding exon 17 of the ALK gene, results from a C to A substitution at nucleotide position 2884. The leucine at codon 962 is replaced by methionine, an amino acid with highly 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.
GeneDx RCV004765791 SCV005378624 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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