ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.397del (p.Thr133fs)

dbSNP: rs1559428134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000767267 SCV000897818 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768302 SCV004569650 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-03-16 criteria provided, single submitter clinical testing This variant is also known as 608delA. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 625244). This premature translational stop signal has been observed in individual(s) with von Hippel-Lindau syndrome (PMID: 9829911). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr133Leufs*26) 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).

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