ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1843T>A (p.Trp615Arg)

dbSNP: rs774517608
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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 RCV001877315 SCV002128773 uncertain significance Neuroblastoma, susceptibility to, 3 2021-08-03 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. This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with arginine at codon 615 of the ALK protein (p.Trp615Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.
GeneDx RCV004762211 SCV005369677 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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