ClinVar Miner

Submissions for variant NC_000002.11:g.(110881641_110883213)_(110901219_110902069)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240003 SCV005888349 pathogenic Joubert syndrome and related disorders 2025-01-06 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 16-19 in the NPHP1 gene. A presumed nomenclature of c.(1597+1_1598-1)_(1929+1_1930-1)del has been designated for the purposes of this classification. This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). The variant was absent in 21694 control chromosomes (gnomAD, structural variants dataset). To our knowledge, no occurrence of c.(1597+1_1598-1)_(1929+1_1930-1)del in individuals affected with Joubert Syndrome And Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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