Submissions for variant NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)

gnomAD frequency: 0.00168  dbSNP: rs373924055

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041215	SCV000064906	likely benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing	p.Gly1709Gly in exon 33 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.2% (18/8740) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org).
Eurofins Ntd Llc (ga)	RCV000726427	SCV000344550	uncertain significance	not provided	2016-09-02	criteria provided, single submitter	clinical testing
Counsyl	RCV000666255	SCV000790515	likely benign	Autosomal recessive nonsyndromic hearing loss 77	2017-03-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000726427	SCV001038177	benign	not provided	2024-12-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000726427	SCV001144454	benign	not provided	2019-06-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000666255	SCV001282915	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	RCV000726427	SCV001795032	likely benign	not provided	2018-10-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726427	SCV004143056	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	LOXHD1: BP4, BP7
Natera, Inc.	RCV000666255	SCV001455674	benign	Autosomal recessive nonsyndromic hearing loss 77	2020-06-29	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952459	SCV004769256	likely benign	LOXHD1-related disorder	2019-10-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).