ClinVar Miner

Submissions for variant NC_000001.10:g.(243507634_243542022)_(243542166_243579003)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 RCV002470078 SCV002766326 likely pathogenic Bardet-Biedl syndrome 2022-11-14 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 13 in the SDCCAG8 gene. A presumed nomenclature of c.(1473+1_1474-1)_(1616+1_1617-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frame shift in the SDCCAG8 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes in the gnomAD database (Structural Variants dataset). To our knowledge, no occurrence of c.(1473+1_1474-1)_(1616+1_1617-1)del in individuals affected with Bardet-Biedl Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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