Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643540 | SCV000765227 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756841 | SCV000884781 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | The TTN c.27754C>G; p.His9252Asp variant, to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The histidine at position 9252 is moderately conserved, considering 10 species, and computational analyses of the effects of the p.His9252Asp variant on protein structure and function make conflicting predictions (SIFT: tolerated, MutationTaster: disease causing, AlignGVGD: Class C0). Given the available evidence, the clinical significance of the p.His9252Asp variant cannot be determined with certainty. |