Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704950 | SCV000238193 | likely benign | not provided | 2020-07-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000464161 | SCV000542987 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381621 | SCV002693755 | uncertain significance | Cardiovascular phenotype | 2018-12-12 | criteria provided, single submitter | clinical testing | The p.K4355E variant (also known as c.13063A>G), located in coding exon 45 of the TTN gene, results from an A to G substitution at nucleotide position 13063. The lysine at codon 4355 is replaced by glutamic acid, an amino acid with similar properties. This variant (reported as p.Lys4401Glu, c.13201A>G) was reported to co-occur with a TTN frameshift alteration in an individual with peripartum cardiomyopathy (van Spaendonck-Zwarts KY et al. Eur. Heart J., 2014 Aug;35:2165-73). This amino acid position is well 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 alteration remains unclear. |
Kardio |
RCV003233492 | SCV003932336 | uncertain significance | Hypertrophic cardiomyopathy 9 | 2023-05-31 | criteria provided, single submitter | clinical testing |