Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172731 | SCV000051508 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000040219 | SCV000063910 | likely benign | not specified | 2014-12-30 | criteria provided, single submitter | clinical testing | p.Gly1137Arg in exon 21 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (230/67514) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72647870). |
Gene |
RCV000040219 | SCV000237842 | benign | not specified | 2017-01-13 | 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 | RCV001084204 | SCV000286592 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000040219 | SCV000315484 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000250640 | SCV000318003 | likely benign | Cardiovascular phenotype | 2019-02-07 | criteria provided, single submitter | clinical testing | Other strong data supporting benign classification |
Eurofins Ntd Llc |
RCV000040219 | SCV000332048 | likely benign | not specified | 2015-06-11 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852941 | SCV000995687 | likely benign | Hypertrophic cardiomyopathy | 2017-07-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172731 | SCV001153189 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | TTN: BS2 |
Illumina Laboratory Services, |
RCV001129652 | SCV001289192 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001129653 | SCV001289193 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001129654 | SCV001289194 | benign | Tibial muscular dystrophy | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001129655 | SCV001289195 | likely benign | Dilated cardiomyopathy 1G | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001132367 | SCV001292026 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040219 | SCV001337971 | benign | not specified | 2021-08-05 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.3409G>C (p.Gly1137Arg) results in a non-conservative amino acid change located in the near Z-disk region of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0022 in 395852 control chromosomes in the gnomAD database (v2.1 and v3.1 datasets), including 1 homozygote. The observed variant frequency is approximately 5.75 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Dilated Cardiomyopathy phenotype (0.00039), strongly suggesting that the variant is benign. c.3409G>C has been reported in the literature in individuals affected with individuals affected with hypertrophic cardiomyopathy and sudden unexplained death, however in at least one of these patients co-occurring potentially pathogenic variant(s) could explain the phenotype (Lopes_2013, Campuzano_2015). These reports do not support the association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight other submitters have provided clinical-significance assessments for this variant in ClinVar after 2014 without evidence for independent evaluation, and classified the variant as VUS (1x), likely benign (6x) / benign (1x). Based on the evidence outlined above, the variant was classified as benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798150 | SCV002042455 | benign | Cardiomyopathy | 2019-08-30 | criteria provided, single submitter | clinical testing |