ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5472del (p.Ala1826fs)

dbSNP: rs1029389440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000033038 SCV002767974 pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2021-05-06 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: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with deafness, autosomal recessive 18B (MIM#614945). (I) 0106 - This gene is associated with autosomal recessive disease. (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 (v3) <0.01 for a recessive condition (5 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. These variants have been reported multiple times as pathogenic and observed in patients with hearing loss (ClinVar, PMID: 31645975). (SP) 0803 - This variant has limited previous evidence of pathogenicity in an individual. This variant has been reported as pathogenic and observed in homozygous state in a single family with hearing loss (ClinVar, LOVD, PMID: 23122587). (SP) 0902 - This variant has moderate evidence for segregation with disease. This variant segregated within four homozygous siblings with hearing loss (PMID: 23122587). (SP) 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
OMIM RCV000033038 SCV000056818 pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2012-11-02 no assertion criteria provided literature only

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