Submissions for variant NM_018834.6(MATR3):c.291A>G (p.Leu97=)

gnomAD frequency: 0.00034  dbSNP: rs147239107

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000546835	SCV000453159	benign	Amyotrophic lateral sclerosis type 21	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000546835	SCV000653848	benign	Amyotrophic lateral sclerosis type 21	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001692009	SCV001914660	benign	not provided	2020-04-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530416	SCV004726175	likely benign	MATR3-related disorder	2019-06-12	criteria provided, single submitter	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).