Megalencephalic leukoencephalopathy with subcortical cysts
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative disorders category
Likely pathogenic
1
Pathogenic
3
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_015166.4(MLC1):c.798C>G (p.Ser266Arg) | Single nucleotide variant | Chr22:50068529 | Likely pathogenic | Missense variant|non-coding transcript variant | rs777790290 |
.Lifecell International Pvt. Ltd |
| NM_015166.4(MLC1):c.368C>T (p.Thr123Ile) | Single nucleotide variant | Chr22:50079973 | Pathogenic | Missense variant|non-coding transcript variant|intron variant | rs769089143 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_015166.4(MLC1):c.177+5G>A | Single nucleotide variant | Chr22:50084721 | Uncertain significance | Intron variant | rs1555968723 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_015166.4(MLC1):c.714+1G>A | Single nucleotide variant | Chr22:50074215 | Pathogenic | Splice donor variant | rs761620701 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_015166.4(MLC1):c.135dup (p.Cys46fs) | Duplication | Chr22:50084767 - 50084768 | Pathogenic | Frameshift variant|non-coding transcript variant|intron variant | rs80358241 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar