ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002283651 SCV002572611 likely pathogenic Polycystic kidney disease, adult type 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense) is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV002283651 SCV005640952 pathogenic Polycystic kidney disease, adult type 2024-05-20 criteria provided, single submitter clinical testing

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