ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6205G>A (p.Gly2069Ser)

gnomAD frequency: 0.00020  dbSNP: rs148363380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721764 SCV005326709 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing Reported as a polymorphism in published literature (Yu et al., 2011); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22185115)
PreventionGenetics, part of Exact Sciences RCV003903815 SCV004724355 likely benign PKD1-related disorder 2024-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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