ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51934235)_(51941151_?)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 RCV004578608 SCV005066110 pathogenic Autosomal recessive polycystic kidney disease 2024-01-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-11 of the PKHD1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). A similar copy number variant has been observed in individual(s) with polycystic kidney disease (PMID: 33123899). For these reasons, this variant has been classified as Pathogenic.

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