Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152480 | SCV000201607 | uncertain significance | not specified | 2017-07-10 | criteria provided, single submitter | clinical testing | The p.Lys3274Gln variant in TTN has not been previously reported in any other fa mily with cardiomyopathy. This variant has been identified in 6/34408 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org; dbSNP rs201696360). Computational prediction tools and conservation an alysis suggest that the p.Lys3274Gln variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, th e clinical significance of the p.Lys3274Gln variant is uncertain. |
Ambry Genetics | RCV000619310 | SCV000737330 | uncertain significance | Cardiovascular phenotype | 2017-11-27 | criteria provided, single submitter | clinical testing | The p.K3228Q variant (also known as c.9682A>C), located in coding exon 40 of the TTN gene, results from an A to C substitution at nucleotide position 9682. The lysine at codon 3228 is replaced by glutamine, 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. |
Center for Advanced Laboratory Medicine, |
RCV000852533 | SCV000995231 | uncertain significance | Cardiomyopathy | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505158 | SCV002816538 | 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 | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137661 | SCV003822806 | uncertain significance | not provided | 2019-06-12 | criteria provided, single submitter | clinical testing |