ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2770G>C (p.Gly924Arg)

gnomAD frequency: 0.00002  dbSNP: rs78086548
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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 RCV001903943 SCV002122063 uncertain significance Neuroblastoma, susceptibility to, 3 2021-10-13 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 present in population databases (rs78086548, ExAC 0.02%). This sequence change replaces glycine with arginine at codon 924 of the ALK protein (p.Gly924Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.
GeneDx RCV003442922 SCV004167888 uncertain significance not provided 2023-04-12 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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