ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.548C>A (p.Ser183Ter) (rs5030823)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703889 SCV000832814 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-03-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the VHL gene (p.Ser183*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 31 amino acids of the VHL protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with von Hippel-Lindau (VHL) syndrome (PMID: 8707293, 10567493, 11309459), and reported to segregate in a single VHL family (PMID: 8707293). This variant is also known as 761C>A in the literature. ClinVar contains an entry for this variant (Variation ID: 2215). A different missense substitution (p.Leu188Val) that lies downstream of this variant has been determined to be pathogenic (PMID: 7563486, 8772572, 7987306, 11331612, 16452184, 18567581, 23772956). This suggests that disruption of this region of the VHL protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002299 SCV000022457 pathogenic Renal cell carcinoma, papillary, 1 1995-06-01 no assertion criteria provided literature only
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000208867 SCV000264769 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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