Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040247 | SCV000063938 | uncertain significance | not specified | 2013-03-06 | criteria provided, single submitter | clinical testing | The Tyr12221Cys variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has also not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), though it may be c ommon in other populations. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. Additional information is needed to fully assess its clinica l significance. |
Eurofins Ntd Llc |
RCV000724175 | SCV000226859 | uncertain significance | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643641 | SCV000765328 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769012 | SCV000900385 | uncertain significance | Cardiomyopathy | 2015-09-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399390 | SCV002713589 | uncertain significance | Cardiovascular phenotype | 2020-01-17 | criteria provided, single submitter | clinical testing | The p.Y5724C variant (also known as c.17171A>G), located in coding exon 67 of the TTN gene, results from an A to G substitution at nucleotide position 17171. The tyrosine at codon 5724 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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, |
RCV002490560 | SCV002779814 | 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 | 2021-08-31 | criteria provided, single submitter | clinical testing |