ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)

dbSNP: rs1888144387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002553384 SCV001224615 uncertain significance Pontocerebellar hypoplasia type 1A 2019-03-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with VRK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 250 of the VRK1 protein (p.Cys250Trp). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tryptophan.

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