ClinVar Miner

Submissions for variant NC_000009.11:g.(126129637_126129851)_(126136200_126136857)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 RCV003236345 SCV003934233 likely pathogenic Focal segmental glomerulosclerosis 9 2023-05-24 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 6-10 in the CRB2 gene. A presumed nomenclature of c.(940+1_941-1)_(3389+1_3390-1)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 frameshift in the CRB2 gene, a known mechanism of disease. The variant was absent in 21678 control chromosomes (gnomAD Structural Variants dataset). To our knowledge, no occurrence of c.(940+1_941-1)_(3389+1_3390-1)del in individuals affected with Focal Segmental Glomerulosclerosis 9 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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