ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.977-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1808864196
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377311 SCV001574615 likely pathogenic Autosomal recessive polycystic kidney disease 2020-06-13 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. 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). This sequence change affects an acceptor splice site in intron 13 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 been observed in individual(s) with polycystic kidney disease (PMID: 12506140). This variant is also known as IVS13-1G>A in the literature. 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.

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