Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000621977 | SCV000737114 | uncertain significance | Cardiovascular phenotype | 2016-07-08 | criteria provided, single submitter | clinical testing | The p.R6632H variant (also known as c.19895G>A), located in coding exon 79 of the TTN gene, results from a G to A substitution at nucleotide position 19895. This alteration is located in the A-band region of the N2-B isoform of the titin protein. The arginine at codon 6632 is replaced by histidine, an amino acid with highly similar properties. Based on data from ExAC, the A allele has an overall frequency of <0.01% (3/104954). This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6045 samples (12090 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
| Fulgent Genetics, |
RCV002483711 | SCV002777936 | 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 | 2021-10-31 | criteria provided, single submitter | clinical testing |