ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.820dup (p.Arg274fs)

dbSNP: rs1582064844
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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 RCV003611535 SCV004509401 pathogenic Autosomal recessive polycystic kidney disease 2023-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg274Lysfs*12) 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 premature translational stop signal has been observed in individual(s) with clinical features of polycystic liver disease (PMID: 28375157). ClinVar contains an entry for this variant (Variation ID: 684635). For these reasons, this variant has been classified as Pathogenic.
Yale Center for Mendelian Genomics, Yale University RCV000845137 SCV000987073 likely pathogenic Autosomal dominant polycystic liver disease 2017-04-04 no assertion criteria provided literature only

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