Submissions for variant NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=)

gnomAD frequency: 0.00065  dbSNP: rs140336379

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001712391	SCV000530054	likely benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Invitae	RCV001002275	SCV000771768	benign	Charcot-Marie-Tooth disease axonal type 2P	2024-01-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002275	SCV001160154	benign	Charcot-Marie-Tooth disease axonal type 2P	2019-12-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001002275	SCV001329283	likely benign	Charcot-Marie-Tooth disease axonal type 2P	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174257	SCV001337387	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418304	SCV002723515	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001712391	SCV004160739	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	LRSAM1: BP4, BP7