Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172225 | SCV000054915 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000472103 | SCV000542361 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345588 | SCV002648241 | uncertain significance | Cardiovascular phenotype | 2020-03-06 | criteria provided, single submitter | clinical testing | The p.R18998C variant (also known as c.56992C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 56992. The arginine at codon 18998 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly 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. |