ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.538C>T (p.Arg180Ter)

gnomAD frequency: 0.00001  dbSNP: rs559481815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375471 SCV001572144 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004789558 SCV005399624 pathogenic Hearing loss, autosomal recessive 110 2023-07-17 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Loss of function is a known mechanism of disease in this gene and is associated with autosomal recessive deafness 110 (MIM#618094; PMID: 32562050). Dominant negative is also a likely mechanism of disease in this gene and is associated with autosomal dominant deafness 9 (MIM#601369; PMID: 25230692). (I) 0108 - This gene is associated with both recessive and dominant disease (PMID: 25230692, PMID: 32562050). (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 (2 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (ClinVar, PMID: 32562050). (SP) 0803 - This variant has limited previous evidence of pathogenicity in an unrelated individual. This variant has been reported as likely pathogenic in ClinVar. (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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