Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041529 | SCV000065224 | benign | not specified | 2012-05-15 | criteria provided, single submitter | clinical testing | Gly123Ser in Exon 05A of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (34/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs116314622). |
Prevention |
RCV003891516 | SCV000316859 | benign | OTOF-related disorder | 2021-08-24 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
ARUP Laboratories, |
RCV000756455 | SCV000884275 | likely benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000756455 | SCV000981139 | benign | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26969326, 29484972, 31095577) |
Ce |
RCV000756455 | SCV001152197 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | OTOF: BP4 |
Al Jalila Children's Genomics Center, |
RCV001731335 | SCV001984693 | benign | Autosomal recessive nonsyndromic hearing loss 9 | 2020-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000756455 | SCV002443284 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041529 | SCV002571057 | benign | not specified | 2022-07-08 | criteria provided, single submitter | clinical testing | Variant summary: OTOF c.367G>A (p.Gly123Ser) results in a non-conservative amino acid change located in the Ferlin, first C2 domain (IPR037726) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0034 in 248832 control chromosomes (gnomAD), including 4 homozygotes. The variant occurs predominantly at a frequency of 0.0068 within the South Asian subpopulation in the gnomAD database. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 6-fold of the estimated maximal expected allele frequency for a pathogenic variant in OTOF causing Nonsyndromic Hearing Loss And Deafness, Type 9 (0.0011), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. Six ClinVar submitters have assessed the variant since 2014: four classified the variant as likely benign, and two as benign. Based on the evidence outlined above, the variant was classified as benign. |