Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040706 | SCV000064397 | likely benign | not specified | 2015-06-25 | criteria provided, single submitter | clinical testing | p.Pro25586Leu in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.85% (83/9754) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org) . |
Eurofins Ntd Llc |
RCV000040706 | SCV000114461 | benign | not specified | 2013-05-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703909 | SCV000237653 | likely benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000226402 | SCV000286873 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000040706 | SCV000616157 | benign | not specified | 2017-01-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769918 | SCV000901344 | benign | Cardiomyopathy | 2023-01-09 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852802 | SCV000995529 | likely benign | Heart failure | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040706 | SCV001370715 | likely benign | not specified | 2020-05-11 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.76757C>T (p.Pro25586Leu) results in a non-conservative amino acid change located in the A-band domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00073 in 274494 control chromosomes, predominantly at a frequency of 0.0082 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 13 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.76757C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Six ClinVar submitters (evaluation after 2014) cite the variant as benign (2x) and likely benign (4x). Based on the evidence outlined above, the variant was classified as likely benign. |
Genome- |
RCV001839709 | SCV002102316 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839710 | SCV002102318 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839711 | SCV002102319 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839708 | SCV002102320 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345325 | SCV002649650 | benign | Cardiovascular phenotype | 2018-10-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Clinical Genetics, |
RCV000040706 | SCV001918431 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000040706 | SCV001966698 | benign | not specified | no assertion criteria provided | clinical testing |