ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.449del (p.Asn150fs) (rs794727253)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175633 SCV000227157 pathogenic not provided 2014-10-09 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767275 SCV000897828 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000796988 SCV000936524 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-10-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the VHL gene (p.Asn150Ilefs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 64 amino acids of the VHL protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with von Hippel-Lindau syndrome (PMID: 7728151, 27527340, 18067796). This variant is also known as 661delA in the literature. ClinVar contains an entry for this variant (Variation ID: 195093). 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.

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