ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003613471 SCV004459195 pathogenic Autosomal recessive polycystic kidney disease 2023-04-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PKHD1 protein in which other variant(s) (p.Arg3961*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.11697_11785+527delinsTTAGG) of the PKHD1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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