ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787118 SCV000926047 likely pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
PreventionGenetics, part of Exact Sciences RCV003396364 SCV004112034 likely pathogenic HNF1B-related condition 2023-01-30 criteria provided, single submitter clinical testing The HNF1B c.904A>G variant is predicted to result in the amino acid substitution p.Asn302Asp. The p.Asn302 residue is located at a highly conserved region, termed homeodomain, which is critical for the function of the HNF1B-encoded transcription factor (Clissold et al. 2014. PubMed ID: 25536396). Missense variants at this region have been widely reported in individuals with HNF1B-related diseases (Human Gene Mutation Database), including this variant (Faguer et al. 2014. PubMed ID: 24897035). Of note, a different substitution at the same codon (p.Asn302Lys) has been reported in an individual with prenatal onset of bilateral hyperechogenic kidneys and postnatal bilateral cortical cysts (Heidet et al. 2010. PubMed ID: 20378641). The c.904A>G (p.Asn302Asp) variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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