ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val)

dbSNP: rs757407982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003983148 SCV004796764 uncertain significance PKD1-related condition 2024-02-12 criteria provided, single submitter clinical testing The PKD1 c.12425G>T variant is predicted to result in the amino acid substitution p.Gly4142Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Alternative variant at the same codon (p.Gly4142Cys) has been reported in an individual with polycystic kidney disease ( Table S1, Yu et al. 2022. PubMed ID: 35778421). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625672 SCV000746175 uncertain significance Polycystic kidney disease, adult type 2017-10-30 no assertion criteria provided clinical testing

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