ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1426G>A (p.Val476Met)

dbSNP: rs984951289
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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 RCV001373577 SCV001570300 uncertain significance Neuroblastoma, susceptibility to, 3 2023-07-03 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1063712). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 476 of the ALK protein (p.Val476Met).
Ambry Genetics RCV002395853 SCV002698440 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter clinical testing The p.V476M variant (also known as c.1426G>A), located in coding exon 7 of the ALK gene, results from a G to A substitution at nucleotide position 1426. The valine at codon 476 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.

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