ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1729G>T (p.Val577Leu)

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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 RCV004738992 SCV005341803 uncertain significance PKD1-related disorder 2024-04-04 no assertion criteria provided clinical testing The PKD1 c.1729G>T variant is predicted to result in the amino acid substitution p.Val577Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, a different substitution at the same codon, defined as c.1730T>G (p.Val577Gly), was reported in individuals with autosomal dominant polycystic kidney disease (ADPKD), but the clinical significance was uncertain (Audrézet et al. 2012. PubMed ID: 22508176, Supp. Table S6; Cornec-Le Gall et al. 2013. PubMed ID: 23431072, Suppl. Table 1). At this time, the clinical significance of the c.1729G>T (p.Val577Leu) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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