Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000023360 | SCV000833114 | uncertain significance | Myofibrillar myopathy 3 | 2022-11-22 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 30407). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 21336781). This variant is present in population databases (rs387906882, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 6 of the MYOT protein (p.Arg6His). |
Gene |
RCV001588824 | SCV001826115 | likely pathogenic | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 21336781, 20301582, 24928145) |
Revvity Omics, |
RCV000023360 | SCV003817866 | uncertain significance | Myofibrillar myopathy 3 | 2019-04-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023360 | SCV000044651 | pathogenic | Myofibrillar myopathy 3 | 2011-08-01 | no assertion criteria provided | literature only |