Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727807 | SCV000855224 | uncertain significance | not provided | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868926 | SCV002256306 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-03-13 | criteria provided, single submitter | clinical testing | 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). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 592896). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 35906 of the TTN protein (p.Ile35906Val). There is a small physicochemical difference between isoleucine and valine. |