Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172723 | SCV000055095 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039847 | SCV000063538 | likely benign | not specified | 2012-12-18 | criteria provided, single submitter | clinical testing | Arg3363His in exon 43 of TTN: This variant is not expected to have it clinical s ignificance because it has been identified in 0.2% (9/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs148169214) and due to a lack of conservati on across species, including mammals. Several other mammals (alpaca, dolphin, an d cow) carry a histidine (His; this variant) at this position supporting that th is change may be tolerated. Arg3363His in exon 43 of TTN (rs148169214; allele f requency = 0.2%, 9/4406) |
Gene |
RCV000172723 | SCV000238075 | likely benign | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362) |
Center for Pediatric Genomic Medicine, |
RCV000172723 | SCV000281091 | uncertain significance | not provided | 2016-04-08 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV001081037 | SCV000555124 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000039847 | SCV000706708 | likely benign | not specified | 2017-03-07 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001129648 | SCV001289188 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2017-06-15 | 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, |
RCV001129649 | SCV001289189 | 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, |
RCV001129650 | SCV001289190 | 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, |
RCV001129651 | SCV001289191 | 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, |
RCV001134674 | SCV001294425 | benign | Tibial muscular dystrophy | 2017-06-15 | 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, |
RCV000039847 | SCV002014879 | likely benign | not specified | 2021-10-11 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.10088G>A (p.Arg3363His) results in a non-conservative amino acid change located in the I-band domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00023 in 282688 control chromosomes, predominantly at a frequency of 0.002 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 5 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 a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.10088G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Six ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=2), likely benign (n=3) and benign (n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
Ambry Genetics | RCV002381318 | SCV002694390 | likely benign | Cardiovascular phenotype | 2018-10-31 | 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. |
Clinical Genetics, |
RCV000039847 | SCV001978812 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000172723 | SCV001980639 | likely benign | not provided | no assertion criteria provided | clinical testing |