ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3398_3399del (p.Val1133fs)

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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 RCV004726322 SCV005340239 pathogenic PKD1-related disorder 2024-06-26 no assertion criteria provided clinical testing The PKD1 c.3398_3399delTG variant is predicted to result in a frameshift and premature protein termination (p.Val1133Glufs*2). This variant was reported in an individual with polycystic kidney disease (Supp. Table 3 in Carrera et al 2016. PubMed ID: 27499327). This variant has not been reported 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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