ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.880+1G>A

dbSNP: rs1582064292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics, Children's Memorial Health Institute RCV001257506 SCV001434247 pathogenic Autosomal recessive polycystic kidney disease 2020-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001257506 SCV002276874 likely pathogenic Autosomal recessive polycystic kidney disease 2022-03-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the PKHD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with polycystic kidney disease (PMID: 28375157). ClinVar contains an entry for this variant (Variation ID: 978787). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV004570650 SCV005056337 pathogenic Polycystic kidney disease 4 2024-01-01 criteria provided, single submitter clinical testing

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