ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3974T>C (p.Leu1325Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006538 SCV005643315 uncertain significance Polycystic kidney disease, adult type 2024-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740849 SCV005363848 likely pathogenic PKD1-related disorder 2024-09-11 no assertion criteria provided clinical testing The PKD1 c.3974T>C variant is predicted to result in the amino acid substitution p.Leu1325Pro. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant showed segregation with affected status in a family tested at PreventionGenetics. This variant is interpreted as likely pathogenic.

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