Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000787118 | SCV000926047 | likely pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Prevention |
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. |