Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000288322 | SCV000335625 | uncertain significance | not provided | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001823129 | SCV002073028 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | criteria provided, single submitter | clinical testing | The missense variant p.T1036A in DYSF (NM_003494.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.T1036A variant is observed in 2/30,614 (0.0065%) alleles from individuals of South Asian background in gnomAD Exomes and in 2/978 (0.2045%) alleles from individuals of South Asian background in 1000 Genomes. In silico tools are contradictory in their prediction (SIFT-Damaging, Polyphen-2-Tolerated) and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance |