ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)

dbSNP: rs2151695909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658933 SCV001874164 likely pathogenic not provided 2021-06-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11058904, 11967008)
Fulgent Genetics, Fulgent Genetics RCV002477876 SCV002788111 likely pathogenic Polycystic kidney disease, adult type 2021-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405744 SCV004104468 likely pathogenic PKD1-related disorder 2023-07-19 criteria provided, single submitter clinical testing The PKD1 c.11555T>C variant is predicted to result in the amino acid substitution p.Leu3852Pro. This variant has been reported to segregate in the heterozygous state with three affected and one unaffected individuals from a single family with autosomal dominant polycystic kidney disease (described as c.11552T>C, Family PKDFe18, Aguiari. 2000. PubMed ID: 11058904). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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