ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.690del (p.Leu231fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002284021 SCV002573343 likely pathogenic Polycystic kidney disease 2 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant 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 RCV002284021 SCV005667924 pathogenic Polycystic kidney disease 2 2024-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005096040 SCV005745635 pathogenic Autosomal dominant polycystic kidney disease 2024-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu231Serfs*2) in the PKD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PKD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1705707). For these reasons, this variant has been classified as Pathogenic.

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