Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000831099 | SCV000972840 | uncertain significance | not provided | 2021-10-14 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Predicted to result in the in-frame deletion of one amino acid, in a gene in which most reported pathogenic variants are truncating/loss-of-function |
Ambry Genetics | RCV002363186 | SCV002656657 | uncertain significance | Cardiovascular phenotype | 2023-03-22 | criteria provided, single submitter | clinical testing | The c.62991_62993delCAC variant (also known as p.T20998del) is located in coding exon 162 of the TTN gene. This variant results from an in-frame CAC deletion at nucleotide positions 62991 to 62993. This results in the in-frame deletion of a threonine at codon 20998. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002495200 | SCV002781197 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-07-16 | criteria provided, single submitter | clinical testing |