ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3791G>T (p.Arg1264Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003815857 SCV004611508 uncertain significance Neuroblastoma, susceptibility to, 3 2023-07-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 1264 of the ALK protein (p.Arg1264Ile).

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