ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.848C>T (p.Pro283Leu)

gnomAD frequency: 0.00001  dbSNP: rs1433099539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003416762 SCV004107559 uncertain significance PKD1-related disorder 2023-06-06 criteria provided, single submitter clinical testing The PKD1 c.848C>T variant is predicted to result in the amino acid substitution p.Pro283Leu. This variant has been reported in an individual with autosomal dominant polycystic kidney disease (ADPKD), however, the individual also had a truncating variant in PKD2 (Supplementary Table S2, Fujimaru et al. 2018. PubMed ID: 29520754). This variant is reported in 1 out of ~201,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/16-2168145-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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