ClinVar Miner

Submissions for variant NC_000010.10:g.(55849824_55892634)_(55943354_55944893)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 RCV002238669 SCV002511907 likely pathogenic Usher syndrome type 1F 2022-04-12 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 13-15 in the PCDH15 gene. A presumed nomenclature of c.(1440+1_1441-1)_(1917+1_1918-1)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 large in-frame deletion change in the PCDH15 gene, a known mechanism of disease. The variant was absent in 21644 control chromosomes. To our knowledge, no occurrence of c.(1440+1_1441-1)_(1917+1_1918-1)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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