ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter)

dbSNP: rs750843149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658963 SCV001874224 pathogenic not provided 2024-05-09 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31807928, 36938073, 34746741, 27499327)
PreventionGenetics, part of Exact Sciences RCV003401567 SCV004112289 pathogenic PKD1-related disorder 2023-04-16 criteria provided, single submitter clinical testing The PKD1 c.6184C>T variant is predicted to result in premature protein termination (p.Gln2062*). This variant has been reported in individuals with polycystic kidney disease 1 (Table S3, Carrera et al 2016. PubMed ID: 27499327; Pinto e Vairo et al. 2021. PubMed ID: 34746741). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2158984-G-A). 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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