ClinVar Miner

Submissions for variant NC_000010.10:g.(?_55580859)_(55591294_55600079)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 RCV002510465 SCV002819906 likely pathogenic Usher syndrome type 1F 2022-12-29 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 30-33 in the PCDH15 gene, which are the last three exons of the PCDH15 gene. The exact breakpoint at the 3' end of this variant is unknown and therefore this deletion might extend beyond the assayed region of the PCDH15 gene. A presumed nomenclature of c.(3983+1_3984-1)_(*759_?)del has been designated for the purposes of this classification. The variant was absent in 21676 control chromosomes (gnomAD). To our knowledge, no occurrence of c.(3983+1_3984-1)_(*759_?)del in individuals affected with Usher Syndrome Type 1F 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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