ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2906C>G (p.Ala969Gly)

gnomAD frequency: 0.00001  dbSNP: rs954019663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338862 SCV001532564 uncertain significance Neuroblastoma, susceptibility to, 3 2024-08-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 969 of the ALK protein (p.Ala969Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035922). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Sema4, Sema4 RCV002255648 SCV002528443 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-13 criteria provided, single submitter curation
Ambry Genetics RCV002255648 SCV002746857 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-08 criteria provided, single submitter clinical testing The p.A969G variant (also known as c.2906C>G), located in coding exon 17 of the ALK gene, results from a C to G substitution at nucleotide position 2906. The alanine at codon 969 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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