ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3729G>T (p.Trp1243Cys)

dbSNP: rs2092501936
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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 RCV003418993 SCV004113031 uncertain significance PKD1-related disorder 2022-11-25 criteria provided, single submitter clinical testing The PKD1 c.3729G>T variant is predicted to result in the amino acid substitution p.Trp1243Cys. This variant has been reported in an individual with polycystic kidney disease (p.W1243C at Supplemental Table 2 of Heyer et al. 2016. PubMed ID: 26823553). This variant is absent in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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