Submissions for variant NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)

gnomAD frequency: 0.00717  dbSNP: rs183531840

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155151	SCV000204837	benign	not specified	2014-09-09	criteria provided, single submitter	clinical testing	Arg343His in Exon 08 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 2.0% (27/1384) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS).
GeneDx	RCV000155151	SCV000718005	likely benign	not specified	2018-01-12	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.
Counsyl	RCV000667751	SCV000792250	likely benign	Autosomal recessive nonsyndromic hearing loss 77	2017-06-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000969105	SCV001116598	benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000667751	SCV001284493	uncertain significance	Autosomal recessive nonsyndromic hearing loss 77	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.
Natera, Inc.	RCV000667751	SCV002086338	benign	Autosomal recessive nonsyndromic hearing loss 77	2019-12-16	no assertion criteria provided	clinical testing