Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184104 | SCV000236655 | benign | not specified | 2014-10-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000643555 | SCV000765242 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001311250 | SCV001473808 | uncertain significance | not provided | 2019-12-15 | criteria provided, single submitter | clinical testing | The TTN c.52409C>A; p.Pro17470Gln variant (rs372618781; ClinVar Variation ID: 202271) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Pro17470Gln variant cannot be determined with certainty. References: Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11). Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798643 | SCV002042531 | uncertain significance | Cardiomyopathy | 2019-08-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001311250 | SCV003822318 | uncertain significance | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001311250 | SCV001922123 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001311250 | SCV001956903 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001311250 | SCV001974705 | uncertain significance | not provided | no assertion criteria provided | clinical testing |