ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6116A>C (p.Gln2039Pro)

dbSNP: rs2092434606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003391495 SCV004111628 likely pathogenic PKD1-related disorder 2023-06-14 criteria provided, single submitter clinical testing The PKD1 c.6116A>C variant is predicted to result in the amino acid substitution p.Gln2039Pro. 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. This variant was found to have occurred de novo in an individual undergoing cystic kidney disease testing at PreventionGenetics (internal data). This variant is interpreted as likely pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005399368 SCV006055032 uncertain significance Polycystic kidney disease, adult type 2024-10-01 criteria provided, single submitter clinical testing

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