ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)

gnomAD frequency: 0.00001  dbSNP: rs121918040
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000518276 SCV000604830 pathogenic not provided 2017-11-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000518276 SCV000614568 pathogenic not provided 2021-03-16 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with polycystic kidney disease (PKD). This variant appears to segregate with disease in at least one family, however, the available information does not rule out segregation due to chance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000654888 SCV000776792 pathogenic Autosomal dominant polycystic kidney disease 2022-06-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 13518). This premature translational stop signal has been observed in individual(s) with autosomal dominant polycystic kidney disease (PMID: 8650545, 12707387, 22383692, 23300259). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs121918040, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg742*) 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). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000518276 SCV004012471 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing Nonsense 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: 29633482, 30586318, 25525159, 29321346, 34101167, 18701462, 23398808, 18721488, 22832196, 21290287, 11302751, 16551655, 16223735, 30566001, 12407099, 31979107, 15130895, 10497221, 26269590, 29529603, 31740684, 12707387, 32384474, 22383692, 23300259, 25266109, 11438989, 22863349, 24658975, 37062241, 8650545)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000014473 SCV005417996 pathogenic Polycystic kidney disease 2 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Moderate+PP1_Strong+PS3_Supporting
Fulgent Genetics, Fulgent Genetics RCV000014473 SCV005668049 pathogenic Polycystic kidney disease 2 2024-02-01 criteria provided, single submitter clinical testing
OMIM RCV000014473 SCV000034724 pathogenic Polycystic kidney disease 2 1996-05-31 no assertion criteria provided literature only
Gharavi Laboratory, Columbia University RCV000518276 SCV000809226 pathogenic not provided 2018-09-16 no assertion criteria provided research

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