Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216027 | SCV000272589 | uncertain significance | not specified | 2016-03-17 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Val4448Ala va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 7/16508 South Asian chromosomes by the Exome Aggreg ation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs570039271). Vali ne (Val) at position 4448 is not conserved in mammals or evolutionarily distant species and 1 mammal (Brush-tailed rat) carries an Alanine (Ala), raising the po ssibility that this change may be tolerated. In summary, while the clinical sign ificance of the p.Val4448Ala variant is uncertain, these data suggest that it is more likely to be benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170648 | SCV001333242 | likely benign | Cardiomyopathy | 2020-01-08 | criteria provided, single submitter | clinical testing |