ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter)

dbSNP: rs757590581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939645 SCV002232553 pathogenic Autosomal recessive polycystic kidney disease 2021-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2383*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV003464303 SCV004204625 pathogenic Polycystic kidney disease 4 2023-06-25 criteria provided, single submitter clinical testing

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