ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.352_353insA (p.Leu118fs) (rs869025641)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221660 SCV001393719 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-07-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the VHL gene (p.Leu118Hisfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 96 amino acids of the VHL protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with von Hippel-Lindau syndrome (PMID: 9829911). This variant is also known as 565_566insA in the literature. ClinVar contains an entry for this variant (Variation ID: 223198). 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208858 SCV000264723 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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