ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)

dbSNP: rs2139814873
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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 RCV002555316 SCV002169103 uncertain significance Pontocerebellar hypoplasia type 1A 2021-01-11 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with VRK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 324 of the VRK1 protein (p.Leu324Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

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