Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000617816 | SCV000736817 | uncertain significance | Cardiovascular phenotype | 2017-04-20 | criteria provided, single submitter | clinical testing | The p.R15623H variant (also known as c.46868G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 46868. The arginine at codon 15623 is replaced by histidine, an amino acid with highly similar properties. This variant was reported (as NM_001267550.1:c.74063G>A p.Arg24688His) in one individual from an arrhythmogenic right ventricular cardiomyopathy (ARVC) cohort, who also had additional cardiac variants detected (Poloni G et al. Heart Rhythm, 2019 May;16:773-780). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Athena Diagnostics | RCV000714089 | SCV000844756 | uncertain significance | not provided | 2018-02-22 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002506498 | SCV002816578 | 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 | 2021-11-08 | criteria provided, single submitter | clinical testing |