ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51612985)_(51637140_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003123096 SCV003796330 pathogenic Autosomal recessive polycystic kidney disease 2022-09-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. 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.His3124Tyr) have been determined to be pathogenic (PMID: 15108281, 31844813, 32398770). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant results in the deletion of exons 56-57 and part of exon 58 (c.8642+360_9429del) 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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