ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2159del (p.Asn720fs)

dbSNP: rs757757289
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506114 SCV000604823 pathogenic not specified 2016-09-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788788 SCV000928031 pathogenic not provided 2018-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001535869 SCV001752488 pathogenic Polycystic kidney disease 2 2021-06-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000788788 SCV001879471 pathogenic not provided 2021-04-05 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000788788 SCV002051473 pathogenic not provided 2020-11-16 criteria provided, single submitter clinical testing PVS1, PP1, PM2, PS4_Moderate
GeneDx RCV000788788 SCV002504113 pathogenic not provided 2023-04-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34758253, 17582161, 9773786, 11156533, 22508176, 10411676, 10760080, 15717641, 25263802, 24658975, 12707387)
Mayo Clinic Laboratories, Mayo Clinic RCV000788788 SCV005413653 pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing PP1_strong, PM2, PS4, PVS1
Genomics England Pilot Project, Genomics England RCV001535869 SCV001760148 pathogenic Polycystic kidney disease 2 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960198 SCV004775737 pathogenic PKD2-related disorder 2023-10-26 no assertion criteria provided clinical testing The PKD2 c.2159delA variant is predicted to result in a frameshift and premature protein termination (p.Asn720Ilefs*17). This variant has been reported to be pathogenic for autosomal dominant polycystic kidney disease (ADPKD) (see for example at Pei et al. 1998. PubMed ID: 9773786, aka 2152delA, L736X). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKD2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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