Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472466 | SCV000542971 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2020-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 7644 of the TTN protein (p.Arg7644Gln). There is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs766675017, ExAC 0.03%). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (Invitae). This variant is located in the I 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). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. 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. |
Eurofins Ntd Llc |
RCV000729863 | SCV000857556 | uncertain significance | not provided | 2017-10-20 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000729863 | SCV003824187 | uncertain significance | not provided | 2021-03-08 | criteria provided, single submitter | clinical testing |