ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6809-2A>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804473 SCV000944384 likely pathogenic Autosomal recessive polycystic kidney disease 2018-12-07 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 41 of the PKHD1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PKHD1-related conditions. 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). 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 RCV000804473 SCV001163035 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing

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