ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)

dbSNP: rs2092344562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) RCV001174549 SCV001337698 likely pathogenic Polycystic kidney disease, adult type 2020-01-21 criteria provided, single submitter clinical testing This variant has been identified in affected patients of four unrelated families.
PreventionGenetics, part of Exact Sciences RCV003396789 SCV004105211 pathogenic PKD1-related disorder 2022-09-13 criteria provided, single submitter clinical testing The PKD1 c.7292T>A variant is predicted to result in the amino acid substitution p.Leu2431Gln. This variant was reported to segregate with autosomal dominant polycystic kidney disease (ADPKD) in four families from the Alpujarra in Granada in Spain, suggesting a founder variant (García-Rabaneda et al. 2020. PubMed ID: 32505451 - https://www.revistanefrologia.com/en-pdf-S2013251420301243). 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 pathogenic.

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