ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.216C>T (p.Ser72=)

gnomAD frequency: 0.00001  dbSNP: rs774557051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631303 SCV000752331 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431859 SCV002730521 likely benign Hereditary cancer-predisposing syndrome 2020-10-06 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.
Color Diagnostics, LLC DBA Color Health RCV003497874 SCV004360953 uncertain significance Von Hippel-Lindau syndrome 2022-11-06 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 1/231698 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.
All of Us Research Program, National Institutes of Health RCV003497874 SCV004828045 uncertain significance Von Hippel-Lindau syndrome 2023-08-28 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 1/231698 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.

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