Submissions for variant NM_002317.7(LOX):c.740+6G>A

gnomAD frequency: 0.00424  dbSNP: rs41478244

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590117	SCV000697915	benign	not provided	2017-07-14	criteria provided, single submitter	clinical testing	Variant summary: The LOX c.740+6G>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 188/120994 control chromosomes (1 homozygote) from ExAC, predominantly observed in the African subpopulation at a frequency of 0.012435 (129/10374). This frequency is about 746 times the estimated maximal expected allele frequency of a pathogenic LOX variant (0.0000167), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. To our knowledge, the variant of interest has not been published in affected individuals in literature. Taken together, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000590117	SCV001024926	benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000590117	SCV001794041	likely benign	not provided	2021-03-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000590117	SCV005222860	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001729644	SCV001977764	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729644	SCV001980356	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735636	SCV005344610	benign	LOX-related disorder	2024-06-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).