Submissions for variant NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)

gnomAD frequency: 0.00328  dbSNP: rs56380300

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230726	SCV000291322	benign	Charcot-Marie-Tooth disease axonal type 2P	2024-01-28	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238735	SCV000297370	benign	not specified	2015-07-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230726	SCV000477217	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000423531	SCV000511271	likely benign	not provided	2017-01-04	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000423531	SCV000513514	benign	not provided	2019-03-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000423531	SCV001155726	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LRSAM1: BP4, BS2
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174258	SCV001337388	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000230726	SCV001473479	likely benign	Charcot-Marie-Tooth disease axonal type 2P	2020-03-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374381	SCV002690707	likely benign	Inborn genetic diseases	2020-06-09	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.
GenomeConnect, ClinGen	RCV000230726	SCV000607058	not provided	Charcot-Marie-Tooth disease axonal type 2P		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Clinical Genetics, Academic Medical Center	RCV000423531	SCV001922562	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000423531	SCV001931162	likely benign	not provided		no assertion criteria provided	clinical testing