ClinVar Miner

Submissions for variant NC_000016.9:g.(?_21675288)_(21772051_?)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 RCV003405113 SCV004121851 pathogenic Autosomal recessive nonsyndromic hearing loss 22 2023-10-02 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 1-29 (i.e. the full coding sequence) in the OTOA gene. A presumed nomenclature of c.(?_-270)_(*190_?)del has been designated for the purposes of this classification. Since exact breakpoints of this deletion are not known, it might extend beyond the assayed region of the gene, including other flanking genes. The variant allele was found at a frequency of 0.00088 in 21694 control chromosomes (gnomAD, structuralvariants dataset). c.(?_-270)_(*190_?)del has been reported in the literature in multiple homozygous individuals affected with Autosomal Recessive Nonsyndromic Hearing Loss (examples: Shearer_2014 and Sugiyama_2019). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 24963352, 31527525). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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