ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.119C>T (p.Pro40Leu)

gnomAD frequency: 0.00004  dbSNP: rs200343185
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199012 SCV000254648 likely benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565432 SCV000664620 likely benign Hereditary cancer-predisposing syndrome 2022-05-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000662921 SCV000785868 uncertain significance Von Hippel-Lindau syndrome 2017-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001588971 SCV001822387 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28188106, 24728327, 24727139)
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153403 SCV003843386 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001588971 SCV004237520 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing
ITMI RCV000122259 SCV000086483 not provided not specified 2013-09-19 no assertion provided reference population

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