Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001320232 | SCV001511011 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-08-23 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 34042 of the TTN protein (p.Ile34042Thr). This variant is present in population databases (rs373173599, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1020625). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |
Fulgent Genetics, |
RCV002493675 | SCV002784617 | 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 | 2021-09-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004528464 | SCV004108630 | uncertain significance | TTN-related disorder | 2023-01-06 | criteria provided, single submitter | clinical testing | The TTN c.102125T>C variant is predicted to result in the amino acid substitution p.Ile34042Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0041% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179399217-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |