ClinVar Miner

Submissions for variant NM_198156.3(VHL):c.341-3170del (rs869025653)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387330 SCV001587933 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-06-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the VHL gene (p.Phe148Leufs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the VHL protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individual(s) with clinical features of von Hippel-Lindau syndrome (PMID: 8641695). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 223212). 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). 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000208793 SCV000264738 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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