ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4230C>A (p.Tyr1410Ter)

dbSNP: rs2544823901
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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 RCV003399804 SCV004105462 pathogenic PKD1-related disorder 2023-04-07 criteria provided, single submitter clinical testing The PKD1 c.4230C>A variant is predicted to result in premature protein termination (p.Tyr1410*). 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. An alternative nucleotide substitution leading to the same amino acid change c.4230C>G (p.Tyr1410*) has been reported in a patient with autosomal dominant polycystic kidney disease (Table S1, Nielsen. 2021. PubMed ID: 33639313). This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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