Submissions for variant NM_001005373.4(LRSAM1):c.751-8C>G

gnomAD frequency: 0.00011  dbSNP: rs367823841

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000547902	SCV000477212	likely benign	Charcot-Marie-Tooth disease axonal type 2P	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547902	SCV000652038	benign	Charcot-Marie-Tooth disease axonal type 2P	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001697769	SCV000719892	likely benign	not provided	2020-06-23	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174267	SCV001337397	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932514	SCV004750250	likely benign	LRSAM1-related disorder	2019-06-25	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).