ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter)

dbSNP: rs1802523270
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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 RCV001062632 SCV001227446 pathogenic Autosomal recessive polycystic kidney disease 2022-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1158*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 857034). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001508190 SCV001714174 pathogenic not provided 2020-04-24 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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