ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.337C>T (p.Arg113Ter)

dbSNP: rs5030810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456132 SCV000260935 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-10-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 220414). This variant is also known as 550C>T (codon 184 ARG>TER). This premature translational stop signal has been observed in individual(s) with von Hippel-Lindau syndrome (PMID: 7987306, 15300849, 19464396, 22799452). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg113*) in the VHL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531, 29891534, 31350093).
Ambry Genetics RCV003165497 SCV003858778 pathogenic Hereditary cancer-predisposing syndrome 2022-11-22 criteria provided, single submitter clinical testing The p.R113* pathogenic mutation (also known as c.337C>T), located in coding exon 1 of the VHL gene, results from a C to T substitution at nucleotide position 337. This changes the amino acid from an arginine to a stop codon within coding exon 1. This pathogenic variant has been reported in multiple individuals diagnosed with von Hippel-Lindau syndrome (VHL) (Launbjerg K et al. Am J Med Genet A. 2017 Sep;173:2381-2394; Nguyen TH et al. Medicine (Baltimore).2018 Sep;97:e12477; Murro V et al. Mol Vis. 2021 Sep;27:542-554). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000204250 SCV000264712 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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