ClinVar Miner

Submissions for variant NM_001354723.2(VHL):c.*94_*97del (rs869025664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805034 SCV000944976 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-11-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the VHL gene (p.Val181Glyfs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acids of the VHL protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the literature in a family affected with von Hippel-Lindau syndrome (PMID: 9829911). This variant is also known as 753_756delCGTC in the literature. ClinVar contains an entry for this variant (Variation ID: 223230). This variant disrupts the C-terminus of the VHL protein. Other variant(s) that disrupt this region (p.Ser183*) have been determined to be pathogenic (PMID: 8707293, 10567493, 11309459, 8707293). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208795 SCV000264767 uncertain significance Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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