Submissions for variant NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser)

gnomAD frequency: 0.00136  dbSNP: rs76420383

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216477	SCV000269545	benign	not specified	2015-04-16	criteria provided, single submitter	clinical testing	p.Pro655Ser in exon 18 of OTOGL: This variant is not expected to have clinical s ignificance because it has been identified in 0.9% (149/16498) of South Asian ch romosomes including 2 homozygotes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs76420383).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000216477	SCV000297389	likely benign	not specified	2015-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000966231	SCV000718870	benign	not provided	2019-04-18	criteria provided, single submitter	clinical testing
Invitae	RCV000966231	SCV001113526	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002515611	SCV003710033	uncertain significance	Inborn genetic diseases	2021-08-10	criteria provided, single submitter	clinical testing	The c.1963C>T (p.P655S) alteration is located in exon 18 (coding exon 18) of the OTOGL gene. This alteration results from a C to T substitution at nucleotide position 1963, causing the proline (P) at amino acid position 655 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000966231	SCV004135504	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	OTOGL: BS2