ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.26C>T (p.Ala9Val)

gnomAD frequency: 0.00002  dbSNP: rs771269721
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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 RCV001830741 SCV000943974 uncertain significance Pontocerebellar hypoplasia type 1A 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 9 of the VRK1 protein (p.Ala9Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs771269721, ExAC 0.02%). 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"). 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. RCV001830741 SCV002093674 uncertain significance Pontocerebellar hypoplasia type 1A 2021-07-20 no assertion criteria provided clinical testing

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