Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647986 | SCV000769796 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2017-08-11 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with histidine at codon 522 of the DYSF protein (p.Tyr522His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs777489323, ExAC 0.07%). This variant has not been reported in the literature in individuals with DYSF-related disease. 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: "Possibly 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. |
Fulgent Genetics, |
RCV000765696 | SCV000897038 | uncertain significance | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset | 2018-10-31 | criteria provided, single submitter | clinical testing |