ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)

gnomAD frequency: 0.00001  dbSNP: rs1449338678
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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 RCV002537227 SCV000946730 uncertain significance Pontocerebellar hypoplasia type 1A 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 287 of the VRK1 protein (p.Asp287Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002442694 SCV002679953 uncertain significance Inborn genetic diseases 2020-02-11 criteria provided, single submitter clinical testing The p.D287G variant (also known as c.860A>G), located in coding exon 9 of the VRK1 gene, results from an A to G substitution at nucleotide position 860. The aspartic acid at codon 287 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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