ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2878A>G (p.Ser960Gly)

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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 RCV003518593 SCV004286540 uncertain significance Neuroblastoma, susceptibility to, 3 2023-09-14 criteria provided, single submitter clinical testing 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. 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 serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 960 of the ALK protein (p.Ser960Gly). 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.
Ambry Genetics RCV004950427 SCV005594195 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-14 criteria provided, single submitter clinical testing The p.S960G variant (also known as c.2878A>G), located in coding exon 17 of the ALK gene, results from an A to G substitution at nucleotide position 2878. The serine at codon 960 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 variant remains unclear.

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