ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.390+1G>A

dbSNP: rs752327566
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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 RCV001257513 SCV001434253 pathogenic Autosomal recessive polycystic kidney disease 2020-09-25 criteria provided, single submitter clinical testing
Invitae RCV001257513 SCV002305150 likely pathogenic Autosomal recessive polycystic kidney disease 2021-02-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with polycystic kidney disease (PMID: 12874454). ClinVar contains an entry for this variant (Variation ID: 978798). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 5 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).
Baylor Genetics RCV003469487 SCV004204826 pathogenic Polycystic kidney disease 4 2021-10-31 criteria provided, single submitter clinical testing

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