ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2795G>C (p.Gly932Ala)

dbSNP: rs755261455
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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 RCV001914184 SCV002195146 uncertain significance Neuroblastoma, susceptibility to, 3 2024-12-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 932 of the ALK protein (p.Gly932Ala). This variant is present in population databases (rs755261455, gnomAD 0.003%). 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: 1420316). 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. 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 RCV003382728 SCV004092484 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-25 criteria provided, single submitter clinical testing The p.G932A variant (also known as c.2795G>C), located in coding exon 16 of the ALK gene, results from a G to C substitution at nucleotide position 2795. The glycine at codon 932 is replaced by alanine, 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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