ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)

gnomAD frequency: 0.00002  dbSNP: rs755450815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002534342 SCV000826082 uncertain significance Pontocerebellar hypoplasia type 1A 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 103 of the VRK1 protein (p.Arg103Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs755450815, ExAC 0.002%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV003163218 SCV003888197 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.307C>T (p.R103C) alteration is located in exon 5 (coding exon 4) of the VRK1 gene. This alteration results from a C to T substitution at nucleotide position 307, causing the arginine (R) at amino acid position 103 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000697470 SCV001454081 uncertain significance Congenital pontocerebellar hypoplasia type 1 2020-09-16 no assertion criteria provided clinical testing

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