Submissions for variant NM_194248.3(OTOF):c.509+11G>A

gnomAD frequency: 0.00196  dbSNP: rs200010052

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041562	SCV000065257	benign	not specified	2017-10-26	criteria provided, single submitter	clinical testing	c.509+11G>A in Intron 05A of OTOF: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 0.7% (176/24014) of African chromosomes includ ing 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs200010052). ACMG/AMP Criteria applied: BS1, BP4, BP7 (Ri chards 2015).
Illumina Laboratory Services, Illumina	RCV000288973	SCV000429647	uncertain significance	Autosomal recessive nonsyndromic hearing loss 9	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV002513591	SCV003034799	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003964893	SCV004779957	benign	OTOF-related condition	2022-05-04	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).