ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.367G>A (p.Gly123Ser)

gnomAD frequency: 0.00134  dbSNP: rs116314622
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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).
PreventionGenetics, part of Exact Sciences 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, Molecular Genetics and Genomics, ARUP Laboratories RCV000756455 SCV000884275 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing
GeneDx 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)
CeGaT Center for Human Genetics Tuebingen RCV000756455 SCV001152197 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing OTOF: BP4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 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, LabCorp 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.

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