ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4856G>T (p.Gly1619Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002340307 SCV002639377 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-30 criteria provided, single submitter clinical testing The p.G1619V variant (also known as c.4856G>T), located in coding exon 29 of the ALK gene, results from a G to T substitution at nucleotide position 4856. The glycine at codon 1619 is replaced by valine, an amino acid with dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775977 SCV004672784 uncertain significance Neuroblastoma, susceptibility to, 3 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1619 of the ALK protein (p.Gly1619Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1743598). 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.

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