ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1523A>T (p.Asp508Val)

gnomAD frequency: 0.00001  dbSNP: rs995433670
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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 RCV001923541 SCV002188434 uncertain significance Neuroblastoma, susceptibility to, 3 2022-06-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 508 of the ALK protein (p.Asp508Val).
Ambry Genetics RCV004631825 SCV005121018 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-05 criteria provided, single submitter clinical testing The p.D508V variant (also known as c.1523A>T), located in coding exon 7 of the ALK gene, results from an A to T substitution at nucleotide position 1523. The aspartic acid at codon 508 is replaced by valine, an amino acid with highly dissimilar 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 variant remains unclear.

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