ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1228G>A (p.Gly410Arg)

gnomAD frequency: 0.00001  dbSNP: rs764207516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227273 SCV001399625 uncertain significance Neuroblastoma, susceptibility to, 3 2023-08-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs764207516, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 410 of the ALK protein (p.Gly410Arg). ClinVar contains an entry for this variant (Variation ID: 954757). 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. 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.
Ambry Genetics RCV003353225 SCV004073531 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-08 criteria provided, single submitter clinical testing The p.G410R variant (also known as c.1228G>A), located in coding exon 5 of the ALK gene, results from a G to A substitution at nucleotide position 1228. The glycine at codon 410 is replaced by arginine, 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.

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