Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756843 | SCV000884786 | likely benign | not provided | 2018-03-25 | criteria provided, single submitter | clinical testing | The c.11586T>C; p.Ile3862Ile 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 a South Asian population frequency of 0.006% (identified on 2 out of 30,750 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). Given the available evidence, the c.11586T>C variant is likely to be benign. |
Prevention |
RCV003938137 | SCV004749954 | likely benign | TTN-related condition | 2019-03-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |