Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000320489 | SCV000340088 | uncertain significance | not provided | 2016-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000639974 | SCV000761560 | uncertain significance | Myofibrillar myopathy 3 | 2017-11-02 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYOT-related disease. ClinVar contains an entry for this variant (Variation ID: 286597). This variant is present in population databases (rs370165036, ExAC 0.001%). This sequence change replaces arginine with isoleucine at codon 188 of the MYOT protein (p.Arg188Ile). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and isoleucine. |
Athena Diagnostics | RCV000320489 | SCV001880327 | uncertain significance | not provided | 2020-10-14 | criteria provided, single submitter | clinical testing |