ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)

gnomAD frequency: 0.00011  dbSNP: rs371024271
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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 RCV001835928 SCV000830828 uncertain significance Pontocerebellar hypoplasia type 1A 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 282 of the VRK1 protein (p.Ile282Thr). This variant is present in population databases (rs371024271, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 578869). 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.
Ambry Genetics RCV002442508 SCV002680609 uncertain significance Inborn genetic diseases 2022-04-26 criteria provided, single submitter clinical testing The p.I282T variant (also known as c.845T>C), located in coding exon 9 of the VRK1 gene, results from a T to C substitution at nucleotide position 845. The isoleucine at codon 282 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835928 SCV002093701 uncertain significance Pontocerebellar hypoplasia type 1A 2020-07-21 no assertion criteria provided clinical testing

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