Submissions for variant NM_015166.4(MLC1):c.279G>A (p.Ser93=)

gnomAD frequency: 0.00422  dbSNP: rs11568172

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000291216	SCV000439242	benign	Megalencephalic leukoencephalopathy with subcortical cysts 1	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	RCV000883479	SCV001026791	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000291216	SCV001653462	likely benign	Megalencephalic leukoencephalopathy with subcortical cysts 1	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000883479	SCV001747344	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	MLC1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000883479	SCV005206632	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001272317	SCV001454192	benign	Megalencephalic leukoencephalopathy with subcortical cysts	2019-11-28	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932380	SCV004755654	benign	MLC1-related disorder	2019-06-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).