ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)

dbSNP: rs2139748832
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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 RCV002548991 SCV002317044 uncertain significance Pontocerebellar hypoplasia type 1A 2021-03-29 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 C0"). 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 tryptophan with arginine at codon 37 of the VRK1 protein (p.Trp37Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.

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