Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000620007 | SCV000736549 | uncertain significance | Cardiovascular phenotype | 2016-02-01 | criteria provided, single submitter | clinical testing | The p.W14906R variant (also known as c.44716T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 44716. The tryptophan at codon 14906 is replaced by arginine, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs373717147. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.01% (1/12022) total alleles studied, having been observed in 0.03% (1/3790) African American alleles. Based on data from ExAC, the C allele has an overall frequency of approximately 0.005% (6/120250). The highest observed frequency was 0.05% (5/9796) of African alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed January 29, 2016]). 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 variant remains unclear. |
| Fulgent Genetics, |
RCV002491316 | SCV002794317 | 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 | 2021-08-23 | criteria provided, single submitter | clinical testing |