ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3601G>C (p.Gly1201Arg)

dbSNP: rs761333959
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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 RCV001932744 SCV002168212 uncertain significance Neuroblastoma, susceptibility to, 3 2023-04-19 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. 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. ClinVar contains an entry for this variant (Variation ID: 1400504). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs761333959, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1201 of the ALK protein (p.Gly1201Arg).

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