ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)

dbSNP: rs2151512212
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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 RCV001381569 SCV001580009 pathogenic Autosomal recessive polycystic kidney disease 2023-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2732*) 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: 1069641). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469662 SCV004204615 likely pathogenic Polycystic kidney disease 4 2023-07-03 criteria provided, single submitter clinical testing

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