ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.1020C>T (p.Asp340=)

gnomAD frequency: 0.00066  dbSNP: rs147853760
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727208 SCV000515255 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000445136 SCV000597929 likely benign not specified 2017-01-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727208 SCV000706623 uncertain significance not provided 2017-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001116698 SCV000762295 benign Pontocerebellar hypoplasia type 1A 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001116698 SCV001274819 uncertain significance Pontocerebellar hypoplasia type 1A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000727208 SCV001334500 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing VRK1: BP4, BP7
Ambry Genetics RCV002379307 SCV002670360 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000727208 SCV001978279 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000727208 SCV001980205 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001116698 SCV002093707 likely benign Pontocerebellar hypoplasia type 1A 2019-10-23 no assertion criteria provided clinical testing

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