Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002741693 | SCV003022755 | uncertain significance | Myofibrillar myopathy 3 | 2022-06-04 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (LGMD) (PMID: 28403181). This variant is present in population databases (rs778912259, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 440 of the MYOT protein (p.Val440Ile). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |