ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3561-1G>A

dbSNP: rs1802457333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219795 SCV001391751 likely pathogenic Autosomal recessive polycystic kidney disease 2019-08-18 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 variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 30 of the PKHD1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Revvity Omics, Revvity RCV001780143 SCV002018832 pathogenic Polycystic kidney disease 4 2020-12-03 criteria provided, single submitter clinical testing

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