Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003392459 | SCV004112033 | uncertain significance | PKD1-related condition | 2023-01-31 | criteria provided, single submitter | clinical testing | The PKD1 c.4631T>G variant is predicted to result in the amino acid substitution p.Val1544Gly. This variant has been reported in individuals with polycystic kidney disease (Mochizuki et al. 2019. PubMed ID: 30989420, Suppl. Table 4; Schönauer et al. 2020. PubMed ID: 32398770, Table S2). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625684 | SCV000746188 | uncertain significance | Polycystic kidney disease, adult type | 2017-11-28 | no assertion criteria provided | clinical testing |