ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.136del (p.Cys46fs)

gnomAD frequency: 0.00001  dbSNP: rs1057516766
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410132 SCV000486190 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2016-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001380083 SCV001578026 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys46Alafs*12) 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). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with megalencephalic leukoencephalopathy with subcortical cysts (PMID: 19168821). ClinVar contains an entry for this variant (Variation ID: 370785). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000410132 SCV003806884 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2022-07-04 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 moderated, PM2 moderated, PM3 supporting
Baylor Genetics RCV000410132 SCV004195001 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2023-02-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833490 SCV002081609 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2020-09-29 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.