Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152222 | SCV000201009 | likely benign | not specified | 2014-06-05 | criteria provided, single submitter | clinical testing | Gly21302Ser in exon 275 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, dolphin, killer whale, white rhinoceros, manatee, and several bird specie h ave a serine (Ser) at this position despite high nearby amino acid conservation. |
Ambry Genetics | RCV000617839 | SCV000736794 | uncertain significance | Cardiovascular phenotype | 2020-09-16 | criteria provided, single submitter | clinical testing | The p.G14805S variant (also known as c.44413G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 44413. The glycine at codon 14805 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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. |
Labcorp Genetics |
RCV000643884 | SCV000765571 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000184785 | SCV003820313 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000184785 | SCV000237496 | not provided | not provided | 2014-04-04 | no assertion provided | clinical testing | Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM,CARDIOMYOPATHY panel(s). |