Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001325402 | SCV001516394 | uncertain significance | Myofibrillar myopathy 3 | 2022-07-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MYOT-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1025125). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 171 of the MYOT protein (p.Leu171Phe). |
Mayo Clinic Laboratories, |
RCV001508172 | SCV001714145 | uncertain significance | not provided | 2020-06-12 | criteria provided, single submitter | clinical testing |