ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+621T>C

gnomAD frequency: 0.00005  dbSNP: rs562162481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001406624 SCV001608579 benign Chuvash polycythemia; Von Hippel-Lindau syndrome 2025-02-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596454 SCV005090547 benign not specified 2025-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416325 SCV004114260 uncertain significance VHL-related disorder 2024-09-02 no assertion criteria provided clinical testing The VHL c.386T>C variant is predicted to result in the amino acid substitution p.Val129Ala. To our knowledge, this variant was not reported in affected individuals. This variant has not been reported in a large population database, indicating this variant is rare. Of note, this variant affects the intron when annotated using the HGMD reportable transcript (NM_000551, c.340+621T>C). This variant has interpretations of uncertain significance (2) and benign (1) in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1088219/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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