Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155001 | SCV000204683 | uncertain significance | not specified | 2013-10-14 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Asp4747Val vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.2% (8/4404) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs14958 6047). Computational analyses are limited or unavailable for this variant. While this frequency suggests that this variant is more likely benign, it is too low to confidently rule out a disease-causing role. Additional information is needed to fully assess its clinical significance. |
Eurofins Ntd Llc |
RCV000730561 | SCV000858308 | uncertain significance | not provided | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002484932 | SCV002782534 | 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 | 2021-08-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004534981 | SCV004120292 | uncertain significance | TTN-related disorder | 2023-05-08 | criteria provided, single submitter | clinical testing | The TTN c.14240A>T variant is predicted to result in the amino acid substitution p.Asp4747Val. This variant is referred to as c.11311+4964A>T (intronic) with an alternate transcript NM_001267550.2. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.061% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179612887-T-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |