Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cavalleri Lab, |
RCV001095561 | SCV001251192 | uncertain significance | Polycystic kidney disease, adult type | 2020-02-05 | criteria provided, single submitter | research | PM2, PP3, PP4 |
Prevention |
RCV003906182 | SCV004718743 | likely pathogenic | PKD1-related condition | 2024-01-19 | criteria provided, single submitter | clinical testing | The PKD1 c.1385G>A variant is predicted to result in the amino acid substitution p.Arg462Lys. This variant has been reported in an individual with polycystic kidney disease (Supplementary Table 3 of Benson et al. 2021. PubMed ID: 33454723). Of note, a different substitution at the same nucleotide (and the same codon), defined as c.1385G>T (p.Arg462Met), has been reported to be segregated with autosomal dominant polycystic kidney disease (ADPKD) in a family and classified as likely pathogenic (He et al. 2018. PubMed ID: 30333007). In addition, since c.1385G>A and c.1385G>T occur at the last base of exon 6 of PKD1, both are predicted to significantly weaken the normal splicing donor site signal (SpliceAI and Alamut Visual Plus v1.6.1). These variants have not been reported in a large population database (http://gnomad.broadinstitute.org), indicating these variants are rare. In summary, the c.1385G>A (p.Arg462Lys) variant is interpreted as likely pathogenic. |