Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623121 | SCV000742523 | uncertain significance | Inborn genetic diseases | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001855311 | SCV001368397 | uncertain significance | Myofibrillar myopathy 3 | 2020-02-21 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
Invitae | RCV001855311 | SCV002296112 | uncertain significance | Myofibrillar myopathy 3 | 2021-12-18 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 521779). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs758194318, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 333 of the MYOT protein (p.Thr333Ile). |
Mayo Clinic Laboratories, |
RCV003480719 | SCV004227126 | uncertain significance | not provided | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001855311 | SCV004236766 | uncertain significance | Myofibrillar myopathy 3 | 2023-04-19 | criteria provided, single submitter | clinical testing |