Submissions for variant NM_194248.3(OTOF):c.4869C>T (p.Gly1623=)

gnomAD frequency: 0.00446  dbSNP: rs61744000

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041553	SCV000065248	benign	not specified	2012-05-14	criteria provided, single submitter	clinical testing	Gly1623Gly in Exon 39 of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.0% (39/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61744000).
GeneDx	RCV000965599	SCV000723276	benign	not provided	2019-07-22	criteria provided, single submitter	clinical testing
Invitae	RCV000965599	SCV001112870	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001136792	SCV001296662	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000965599	SCV003799696	benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000965599	SCV004700642	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	OTOF: BS1, BS2