Submissions for variant NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)

gnomAD frequency: 0.00074  dbSNP: rs148468627

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150959	SCV000198628	benign	not specified	2016-12-22	criteria provided, single submitter	clinical testing	p.Arg2138Gln in exon 40 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 3.3% (390/11902) of East Asian c hromosomes by the Genome Aggregation Consortium(gnomAD, http://gnomad.broadinsti tute.org; dbSNP rs148468627).
Illumina Laboratory Services, Illumina	RCV001002773	SCV000408698	uncertain significance	Autosomal recessive nonsyndromic hearing loss 77	2018-01-12	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.
GeneDx	RCV000150959	SCV000725227	benign	not specified	2017-12-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	RCV001002773	SCV000992418	uncertain significance	Autosomal recessive nonsyndromic hearing loss 77		criteria provided, single submitter	case-control
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894464	SCV001038450	benign	not provided	2025-01-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000150959	SCV001476667	benign	not specified	2019-10-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150959	SCV003923294	likely benign	not specified	2023-03-14	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001002773	SCV001460001	benign	Autosomal recessive nonsyndromic hearing loss 77	2020-09-16	no assertion criteria provided	clinical testing
Ophthalmology Lab, The First People's Hospital of Yunnan Provience	RCV004730885	SCV005326288	likely pathogenic	concomitant exotropia	2024-08-30	no assertion criteria provided	clinical testing	Dominant inheritance. Diseases associated with LOXHD1 include deafness, autosomal recessive 77 and autosomal recessive nonsyndromic sensorineural deafness and late-onset Fuchs’ corneal dystrophy