Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494029 | SCV000582095 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | The R3756H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R3756H variant is observed in 1/49074 (0.002%) allele from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. Additionally, the R3756H variant is not located in the A-band nor the M-line region of titin, where the majority of pathogenic truncating variants have been reported. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. |
Labcorp Genetics |
RCV000551993 | SCV000642705 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000494029 | SCV001474966 | uncertain significance | not provided | 2020-06-09 | criteria provided, single submitter | clinical testing |