Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004527065 | SCV005039165 | pathogenic | Charcot-Marie-Tooth disease axonal type 2T | 2024-03-25 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exons 1-3 in the MME gene. A presumed nomenclature of c.(?_-159)_(196+1_197-1)del has been designated for the purposes of this classification. The exact breakpoint at the 5' end of this variant is unknown, therefore this deletion may extend upstream of the annotated region of this gene. Although the exact breakpoints of this deletion are not known, it is predicted to remove the initiation codon and result in an absence of protein or a truncation of the encoded protein due to translation initiation at a downstream site. The variant allele was found at a frequency of 4.6e-05 in 21648 control chromosomes in the gnomAD database (Structural Variants v2.1 dataset). To our knowledge, no occurrence of c.(?_-159)_(196+1_197-1)del in individuals affected with Charcot-Marie Disease Axonal Type 2T and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic. |