ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002446415 SCV002734282 uncertain significance Inborn genetic diseases 2020-10-22 criteria provided, single submitter clinical testing The p.N77S variant (also known as c.230A>G), located in coding exon 3 of the VRK1 gene, results from an A to G substitution at nucleotide position 230. The asparagine at codon 77 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101728 SCV003033772 uncertain significance Pontocerebellar hypoplasia type 1A 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 77 of the VRK1 protein (p.Asn77Ser). This variant is not present in population databases (gnomAD 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 disruptive. 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.

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