ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51491828)_(51492507_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002029988 SCV002108146 likely pathogenic Autosomal recessive polycystic kidney disease 2021-12-22 criteria provided, single submitter clinical testing 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). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1067873). 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.

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