Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554322 | SCV000642579 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with glycine at codon 35284 of the TTN protein (p.Ala35284Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene This variant identified in the TTN gene is located in the M-band of the resulting protein (PMID: 25589632). It is unclear how this variant impacts the function of this protein This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TTN-related disease. |