ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys)

dbSNP: rs2092659023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095561 SCV001251192 uncertain significance Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2, PP3, PP4
PreventionGenetics, part of Exact Sciences 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.

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