Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041087 | SCV000064778 | uncertain significance | not specified | 2013-02-12 | criteria provided, single submitter | clinical testing | The Gly3821Lys variant in TTN has not been described in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/8208 o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS/; dbSNP). Computational analyses are limited or unavailable for this variant. In summary, additional information is needed to fully assess the clinical significance of the Gly3821Lys variant. |
Gene |
RCV000041087 | SCV000238172 | uncertain significance | not specified | 2014-07-15 | criteria provided, single submitter | clinical testing | Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s). |
Labcorp Genetics |
RCV000643723 | SCV000765410 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504918 | SCV002816610 | 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 | 2021-11-12 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149667 | SCV003838617 | uncertain significance | Cardiomyopathy | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004528229 | SCV004107064 | uncertain significance | TTN-related disorder | 2022-12-12 | criteria provided, single submitter | clinical testing | The TTN c.12175G>T variant is predicted to result in the amino acid substitution p.Gly4059Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179605785-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |