ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4348G>A (p.Gly1450Ser)

gnomAD frequency: 0.00001  dbSNP: rs1346420173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230204 SCV001402677 uncertain significance Neuroblastoma, susceptibility to, 3 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1450 of the ALK protein (p.Gly1450Ser). 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: 957254). 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. 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 RCV002327548 SCV002633084 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-27 criteria provided, single submitter clinical testing The p.G1450S variant (also known as c.4348G>A), located in coding exon 29 of the ALK gene, results from a G to A substitution at nucleotide position 4348. The glycine at codon 1450 is replaced by serine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001230204 SCV004199296 uncertain significance Neuroblastoma, susceptibility to, 3 2023-09-14 criteria provided, single submitter clinical testing

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