Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756855 | SCV000884808 | likely benign | not provided | 2018-06-20 | criteria provided, single submitter | clinical testing | The c.11918G>A; p.Ser3973Asn variant does not alter the amino acid sequence of the TTN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.007 % (identified on 2 out of 30,946 chromosomes), and evidence suggests that the vast majority of rare non-truncating TTN variants do not contribute to the clinical outcome of DCM (Begay 2015). This variant was detected in an unaffected individual who was an obligate heterozygote for Barth syndrome and in whom a pathogenic TAZ variant was detected. Thus, this TTN variant is considered likely benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486927 | SCV004239829 | likely benign | Cardiomyopathy | 2023-03-14 | criteria provided, single submitter | clinical testing |