Submissions for variant NM_014845.6(FIG4):c.808A>G (p.Thr270Ala)

gnomAD frequency: 0.00411  dbSNP: rs61729092

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250363	SCV000312233	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095043	SCV000459616	benign	Charcot-Marie-Tooth disease type 4J	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.
Illumina Laboratory Services, Illumina	RCV000303832	SCV000459617	benign	Amyotrophic lateral sclerosis type 11	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.
GeneDx	RCV001705371	SCV000518310	benign	not provided	2019-09-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21705420)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463578	SCV000557788	benign	Charcot-Marie-Tooth disease type 4	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705371	SCV001160295	benign	not provided	2019-12-18	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173522	SCV001336611	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000250363	SCV002069793	benign	not specified	2021-10-12	criteria provided, single submitter	clinical testing