ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.203dup (p.Ala69fs)

dbSNP: rs1187336837
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555382 SCV000658971 pathogenic Autosomal dominant polycystic kidney disease 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala69Glyfs*23) 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 premature translational stop signal has been observed in individuals with autosomal dominant polycystic kidney disease (PMID: 10411676, 18837007, 22508176). This variant is also known as 198insC. ClinVar contains an entry for this variant (Variation ID: 477627). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV000555382 SCV001430257 pathogenic Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV000681716 SCV001801842 pathogenic not provided 2022-02-08 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22508176, 10411676, 14993477, 18837007, 29633482, 33437033, 34101167)
Athena Diagnostics Inc RCV000681716 SCV001879470 pathogenic not provided 2021-01-21 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). In some published literature, this variant is referred to as 198insC. This variant has been identified in multiple unrelated individuals with clinical features associated with this gene.
MGZ Medical Genetics Center RCV002289770 SCV002580810 pathogenic Polycystic kidney disease 2 2022-01-24 criteria provided, single submitter clinical testing
OMIM RCV002289770 SCV000034729 pathogenic Polycystic kidney disease 2 1999-03-01 no assertion criteria provided literature only
Gharavi Laboratory, Columbia University RCV000681716 SCV000809169 pathogenic not provided 2018-09-16 no assertion criteria provided research

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