Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727399 | SCV000621754 | uncertain significance | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the DYSF gene. The P1214L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P1214L variant is observed in 31/30780 (0.1%) alleles from individuals of South Asian background (Lek et al., 2016). The P1214L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
EGL Genetic Diagnostics, |
RCV000727399 | SCV000708226 | uncertain significance | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727399 | SCV000892567 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765698 | SCV000897040 | 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 | |
Natera, |
RCV001272834 | SCV001455225 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-11-11 | no assertion criteria provided | clinical testing |