ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.374_375del (p.His125fs)

dbSNP: rs869025644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687965 SCV000815560 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His125Argfs*6) 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). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 223202). This variant has not been reported in the literature in individuals affected with VHL-related conditions.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000208802 SCV000264727 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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