ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4768G>C (p.Gly1590Arg)

dbSNP: rs190639819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069057 SCV001234201 uncertain significance Neuroblastoma, susceptibility to, 3 2019-01-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ALK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 1590 of the ALK protein (p.Gly1590Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.
Ambry Genetics RCV003307928 SCV003998371 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-07 criteria provided, single submitter clinical testing The p.G1590R variant (also known as c.4768G>C), located in coding exon 29 of the ALK gene, results from a G to C substitution at nucleotide position 4768. The glycine at codon 1590 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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