Submissions for variant NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)

gnomAD frequency: 0.00677  dbSNP: rs41281338

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039274	SCV000062958	benign	not specified	2011-10-17	criteria provided, single submitter	clinical testing	Glu2588Gln in exon 55 of CDH23: This variant is not expected to have clinical si gnificance due to its occurrence at an equal frequency in the general population (Astuto 2002, Oshima 2008, Kothiyal 2010), its presence in dbSNP at a frequency of 0.9% (8/899) of control chromosomes (rs41281338), and the lack of conservati on of Glu2588 as cow, dog, cat, and opossum all have a glutamine (Gln) at this p osition.
GeneDx	RCV001522497	SCV000714491	benign	not provided	2018-06-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21569298, 20146813, 12075507, 18429043, 11138009)
Illumina Laboratory Services, Illumina	RCV001104789	SCV001261676	likely benign	Usher syndrome type 1D	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001104790	SCV001261677	uncertain significance	Autosomal recessive nonsyndromic hearing loss 12	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.
Athena Diagnostics Inc	RCV000039274	SCV001475762	benign	not specified	2019-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001104789	SCV001653332	likely benign	Usher syndrome type 1D	2021-05-18	criteria provided, single submitter	clinical testing
Invitae	RCV001522497	SCV001732057	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001104790	SCV001750582	likely benign	Autosomal recessive nonsyndromic hearing loss 12	2021-07-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826580	SCV002087625	benign	Usher syndrome type 1	2019-11-27	no assertion criteria provided	clinical testing