ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.*22G>A

gnomAD frequency: 0.00007  dbSNP: rs200421746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723368 SCV001951172 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727990 SCV001972241 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003394235 SCV004119495 uncertain significance HNF1B-related disorder 2024-08-06 no assertion criteria provided clinical testing The HNF1B c.1304G>A variant is predicted to result in the amino acid substitution p.Arg435His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, 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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