ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.668G>T (p.Gly223Val)

dbSNP: rs1555361508
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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 RCV000640692 SCV000762289 uncertain significance Pontocerebellar hypoplasia type 1A 2022-11-15 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 533535). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 223 of the VRK1 protein (p.Gly223Val).
Natera, Inc. RCV000640692 SCV002093694 uncertain significance Pontocerebellar hypoplasia type 1A 2020-10-30 no assertion criteria provided clinical testing

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