ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)

dbSNP: rs1334145215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809877 SCV000950058 pathogenic Autosomal recessive polycystic kidney disease 2018-08-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PKHD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala3376Glnfs*24) 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.
CeGaT Center for Human Genetics Tuebingen RCV001091106 SCV001246961 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844848 SCV001876972 pathogenic Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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