Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536447 | SCV000642802 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-29 | criteria provided, single submitter | clinical testing | In summary, this is a rare missense change with uncertain impact on protein function and splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant identified in the TTN gene is located in the I band of the resulting protein (PMID: 25589632). It is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. This variant is present in population databases (rs755600935, ExAC 0.01%) but has not been reported in the literature in individuals with a TTN-related disease. This sequence change replaces asparagine with serine at codon 7214 of the TTN protein (p.Asn7214Ser). There is a small physicochemical difference between asparagine and serine. |