Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002274947 | SCV000237613 | uncertain significance | not provided | 2022-08-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23975875) |
Ambry Genetics | RCV002345657 | SCV002649365 | uncertain significance | Cardiovascular phenotype | 2019-07-15 | criteria provided, single submitter | clinical testing | The p.E18079G variant (also known as c.54236A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 54236. The glutamic acid at codon 18079 is replaced by glycine, an amino acid with similar properties. 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 alteration remains unclear. |
Fulgent Genetics, |
RCV002478642 | SCV002799543 | 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 | 2021-07-22 | criteria provided, single submitter | clinical testing |