Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866599 | SCV001007719 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-10-08 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195473 | SCV001365850 | likely benign | not specified | 2020-04-20 | criteria provided, single submitter | clinical testing | The p.Arg32141His variant in TTN is classified as likely benign because it has been identified in 0.09% (18/19532) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1. |
Ambry Genetics | RCV002399896 | SCV002674254 | uncertain significance | Cardiovascular phenotype | 2018-07-24 | criteria provided, single submitter | clinical testing | The p.R25644H variant (also known as c.76931G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 76931. The arginine at codon 25644 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, histidine 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. |