Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000790688 | SCV000331293 | pathogenic | not provided | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763088 | SCV000893615 | likely pathogenic | 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 | |
Invitae | RCV001229764 | SCV001402219 | pathogenic | Qualitative or quantitative defects of dysferlin | 2019-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 1046 of the DYSF protein (p.Arg1046His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs121908958, ExAC 0.02%). This variant has been observed in combination with a second variant in the DYSF gene in several individuals affected with Miyoshi myopathy and was observed to segregate with disease in a family (PMID: 25591676, 18853459, 11468312, 27647186). ClinVar contains an entry for this variant (Variation ID: 6675). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007060 | SCV000027256 | pathogenic | Miyoshi muscular dystrophy 1 | 2003-06-10 | no assertion criteria provided | literature only | |
Counsyl | RCV000176936 | SCV000789409 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-02-10 | no assertion criteria provided | clinical testing |