ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)

gnomAD frequency: 0.00127  dbSNP: rs139779680
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179563 SCV000231826 uncertain significance not provided 2015-05-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825798 SCV000967267 likely benign not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Arg193Ile variant in OTOF is classified as likely benign because it has be en identified in 0.4% (95/24028) of African chromosomes by the Genome Aggregatio n Database (gnomAD, http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied : BS1.
GeneDx RCV000179563 SCV000980170 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Invitae RCV000179563 SCV002363614 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515277 SCV003543675 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.578G>T (p.R193I) alteration is located in exon 6 (coding exon 6) of the OTOF gene. This alteration results from a G to T substitution at nucleotide position 578, causing the arginine (R) at amino acid position 193 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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