ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.473del (p.Glu158fs)

dbSNP: rs1578111620
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792244 SCV000931525 pathogenic Autosomal dominant polycystic kidney disease 2018-11-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349). This variant has not been reported in the literature in individuals with PKD2-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Glu158Glyfs*75) in the PKD2 gene. It is expected to result in an absent or disrupted protein product.

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