ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3420del (p.Gly1141fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017232 SCV005640921 pathogenic Polycystic kidney disease, adult type 2024-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004726386 SCV005335712 pathogenic PKD1-related disorder 2024-08-26 no assertion criteria provided clinical testing The PKD1 c.3420delC variant is predicted to result in a frameshift and premature protein termination (p.Gly1141Alafs*30). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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