Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642755 | SCV000764442 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-04 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 22751 of the TTN protein (p.Asn22751Ser). There is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs761226149, ExAC 0.002%). This variant has not been reported in the literature in individuals with TTN-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |