Submissions for variant NM_015166.4(MLC1):c.449_455del (p.Leu150fs)

gnomAD frequency: 0.00003  dbSNP: rs1057517090

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000412051	SCV000486730	pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	2016-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002523869	SCV003444456	pathogenic	not provided	2023-04-28	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 371207). For these reasons, this variant has been classified as Pathogenic. This variant is also known as 564-570del (L149 frameshift). This premature translational stop signal has been observed in individual(s) with megalencephalic leukoencephalopathy with subcortical cysts (PMID: 11254442). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Leu150Argfs*9) in the MLC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLC1 are known to be pathogenic (PMID: 11254442, 16470554, 24824219).
Baylor Genetics	RCV000412051	SCV005057937	pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	2024-02-11	criteria provided, single submitter	clinical testing
OMIM	RCV000412051	SCV000025156	pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	2001-04-01	no assertion criteria provided	literature only
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	RCV000412051	SCV001250616	uncertain significance	Megalencephalic leukoencephalopathy with subcortical cysts 1		no assertion criteria provided	clinical testing