ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.962G>A (p.Arg321His)

dbSNP: rs200927943
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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 RCV001825615 SCV000949421 uncertain significance Pontocerebellar hypoplasia type 1A 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 321 of the VRK1 protein (p.Arg321His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs200927943, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg321 amino acid residue in VRK1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Natera, Inc. RCV001825615 SCV002093704 uncertain significance Pontocerebellar hypoplasia type 1A 2020-09-09 no assertion criteria provided clinical testing

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