ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)

dbSNP: rs768822328
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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 RCV002548003 SCV002126517 uncertain significance Pontocerebellar hypoplasia type 1A 2022-07-19 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1360590). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. This variant is present in population databases (rs768822328, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 253 of the VRK1 protein (p.Gln253Arg).

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