ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.258C>G (p.Pro86=)

gnomAD frequency: 0.00001  dbSNP: rs781063331
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229128 SCV000285493 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565109 SCV000675793 likely benign Hereditary cancer-predisposing syndrome 2016-05-17 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.
Counsyl RCV000662444 SCV000784912 likely benign Von Hippel-Lindau syndrome 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651085 SCV001864552 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565109 SCV002534152 likely benign Hereditary cancer-predisposing syndrome 2020-11-18 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001651085 SCV004221481 likely benign not provided 2022-12-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000662444 SCV004815816 likely benign Von Hippel-Lindau syndrome 2023-12-18 criteria provided, single submitter clinical testing This variant is located in the VHL protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with VHL-related disorders in the literature. This variant has been identified in 8/227710 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001651085 SCV005075168 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing VHL: BP4, BP7

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