ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1663G>T (p.Gly555Ter)

dbSNP: rs2092640827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003416665 SCV004109556 pathogenic PKD1-related disorder 2023-06-13 criteria provided, single submitter clinical testing The PKD1 c.1663G>T variant is predicted to result in premature protein termination (p.Gly555*). 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. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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