ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)

gnomAD frequency: 0.00001  dbSNP: rs201936978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000288914 SCV000337036 uncertain significance not provided 2015-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001833334 SCV001225004 uncertain significance Pontocerebellar hypoplasia type 1A 2021-09-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 156 of the VRK1 protein (p.Gln156Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs201936978, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 284417). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001833334 SCV002093686 uncertain significance Pontocerebellar hypoplasia type 1A 2020-09-08 no assertion criteria provided clinical testing

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