Submissions for variant NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)

gnomAD frequency: 0.70073  dbSNP: rs1049402

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249303	SCV000308669	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000986124	SCV000468629	benign	Charcot-Marie-Tooth disease type 2D	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.
Illumina Laboratory Services, Illumina	RCV000396526	SCV000468630	benign	Neuronopathy, distal hereditary motor, type 5A	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.
Illumina Laboratory Services, Illumina	RCV000305283	SCV000468631	benign	Distal spinal muscular atrophy	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.
Athena Diagnostics Inc	RCV000249303	SCV000677303	benign	not specified	2021-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV000340289	SCV001000047	benign	Charcot-Marie-Tooth disease type 2	2024-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000986124	SCV001135018	benign	Charcot-Marie-Tooth disease type 2D	2019-05-28	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172984	SCV001336059	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986124	SCV001933720	benign	Charcot-Marie-Tooth disease type 2D	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000396526	SCV001933721	benign	Neuronopathy, distal hereditary motor, type 5A	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701897	SCV001933722	benign	Spinal muscular atrophy, infantile, James type	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000676705	SCV001945819	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676705	SCV000802504	benign	not provided	2016-02-15	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249303	SCV001744144	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000249303	SCV001922457	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249303	SCV001955014	benign	not specified		no assertion criteria provided	clinical testing