Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146476 | SCV000193765 | pathogenic | Severe X-linked myotubular myopathy | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000146476 | SCV003445273 | likely pathogenic | Severe X-linked myotubular myopathy | 2022-05-03 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 227 of the MTM1 protein (p.Val227Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with X-linked myotubular myopathy (PMID: 10790201, 11793470, 17537630, 27363342). ClinVar contains an entry for this variant (Variation ID: 158997). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Center for Genomic Medicine, |
RCV000146476 | SCV004801235 | pathogenic | Severe X-linked myotubular myopathy | 2024-03-14 | criteria provided, single submitter | research |