Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155661 | SCV000205370 | uncertain significance | not specified | 2013-04-21 | criteria provided, single submitter | clinical testing | The Val8039Met variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant. |
Eurofins Ntd Llc |
RCV000724980 | SCV000332884 | uncertain significance | not provided | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724980 | SCV000719826 | likely benign | not provided | 2018-07-12 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000724980 | SCV003800414 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | The TTN c.27847G>A; p.Val9283Met variant [rs727504515; ClinVar Variation ID: 178889] is rare in the general population (<0.2% 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.Val9283Met 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). PMID: 26567375. Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28. PMID: 22335739. |
Revvity Omics, |
RCV000724980 | SCV003822939 | uncertain significance | not provided | 2020-02-13 | criteria provided, single submitter | clinical testing |