Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146405 | SCV000193691 | uncertain significance | Severe X-linked myotubular myopathy | 2013-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000146405 | SCV001397322 | uncertain significance | Severe X-linked myotubular myopathy | 2019-05-16 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 of the MTM1 gene. It does not directly change the encoded amino acid sequence of the MTM1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with myotubular myopathy (PMID: 11793470). ClinVar contains an entry for this variant (Variation ID: 158926). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 11793470). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |