Submissions for variant NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)

gnomAD frequency: 0.16571  dbSNP: rs6856

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116505	SCV000306658	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000320427	SCV000372867	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	RCV000377345	SCV000372868	benign	Congenital generalized lipodystrophy type 2	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860294	SCV001000288	benign	Charcot-Marie-Tooth disease type 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553920	SCV001775023	benign	Severe neurodegenerative syndrome with lipodystrophy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000377345	SCV001775024	benign	Congenital generalized lipodystrophy type 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553921	SCV001775025	benign	Neuronopathy, distal hereditary motor, type 5C	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553922	SCV001775026	benign	Hereditary spastic paraplegia 17	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001707526	SCV001935853	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847676	SCV002106268	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001707526	SCV005316732	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116505	SCV000150453	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Phenosystems SA	RCV002463437	SCV002757885	pathogenic	Triangular shaped proximal phalanx of the thumb; Neutrophilia in presence of infection; Isolated systolic hypertension		no assertion criteria provided	clinical testing