Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040239 | SCV000063930 | uncertain significance | not specified | 2013-01-02 | criteria provided, single submitter | clinical testing | The Arg11958Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/8288 E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/). Arginine (Arg) at position 11958 is poorly conserved in evolution, and 1 species (zebrafish) carries the variant amino acid (Gln) at this position, suggesting this change may be tolerated. Com putational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, an d SIFT) suggest that the Arg11958Gln variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the Arg11958G ln variant. |
Eurofins Ntd Llc |
RCV000724718 | SCV000226857 | uncertain significance | not provided | 2015-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724718 | SCV000237167 | likely benign | not provided | 2019-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000473565 | SCV000542559 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-04-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000724718 | SCV000616082 | uncertain significance | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001133884 | SCV001293598 | uncertain significance | 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 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, |
RCV001135394 | SCV001295171 | uncertain significance | 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 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, |
RCV001135395 | SCV001295172 | 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, |
RCV001135396 | SCV001295173 | benign | Tibial muscular dystrophy | 2017-06-01 | 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, |
RCV001135397 | SCV001295174 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2017-06-01 | 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, |
RCV000040239 | SCV001519475 | uncertain significance | not specified | 2024-09-30 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.35873G>A (p.Arg11958Gln) results in a conservative amino acid change located in the I-band region of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 9.7e-05 in 238322 control chromosomes, predominantly at a frequency of 0.00017 within the Non-Finnish European subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Dilated Cardiomyopathy (9.7e-05 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.35873G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 46969). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ambry Genetics | RCV002399388 | SCV002709264 | likely benign | Cardiovascular phenotype | 2020-03-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Revvity Omics, |
RCV000724718 | SCV003822289 | uncertain significance | not provided | 2023-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724718 | SCV004152424 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS2 |
Clinical Genetics, |
RCV000724718 | SCV001918312 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724718 | SCV001975599 | likely benign | not provided | no assertion criteria provided | clinical testing |