Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155789 | SCV000205500 | uncertain significance | not specified | 2013-06-07 | criteria provided, single submitter | clinical testing | The Ala27980Val in TTN has not been reported in individuals with cardiomyopathy or in large population studies. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong s upport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant. |
Ambry Genetics | RCV000249201 | SCV000320184 | likely benign | Cardiovascular phenotype | 2015-09-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Eurofins Ntd Llc |
RCV000155789 | SCV000334915 | benign | not specified | 2015-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080345 | SCV000555303 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000155789 | SCV000616174 | benign | not specified | 2017-02-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769879 | SCV000901305 | benign | Cardiomyopathy | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000184979 | SCV001152666 | uncertain significance | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000184979 | SCV000237755 | not provided | not provided | 2014-03-20 | no assertion provided | clinical testing | Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s). |