ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2865dup (p.Val956fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003150899 SCV003839105 likely pathogenic Polycystic kidney disease, adult type 2022-12-23 criteria provided, single submitter clinical testing This PKD1 variant is absent in a large population dataset and has not been reported in ClinVar, nor the literature in association with ADPKD to our knowledge. This frameshift variant in exon 12 of 46 results in a premature termination codon (PTC) likely leading to nonsense-mediated decay and lack of protein production. We consider c.2865dupC (p.Val956fs) to be likely pathogenic.

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