ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11666-593_11752del

dbSNP: rs2150277532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379251 SCV001577012 likely pathogenic Autosomal recessive polycystic kidney disease 2022-12-13 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. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant results in the deletion of part of exon 66 (c.11666-593_11752del) 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).

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