Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155827 | SCV000205538 | likely benign | not specified | 2013-06-14 | criteria provided, single submitter | clinical testing | Arg19036Gln in exon 259 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.7% (3/110) of Puerto Rican chromo somes by the 1000 Genomes Project (dbSNP rs188996850). In addition, several othe r species (guinea pig, tetradon, fugu, and medaka) carry a glutamine (Gln) at th is position. Arg19036Gln in exon 259 of TTN (rs188996850; allele frequency = 2. 7%, 3/110) |
Invitae | RCV000476685 | SCV000542319 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000733639 | SCV000725412 | likely benign | not provided | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733639 | SCV000861729 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769975 | SCV000901401 | uncertain significance | Cardiomyopathy | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345509 | SCV002622328 | likely benign | Cardiovascular phenotype | 2020-03-05 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000155827 | SCV002766511 | uncertain significance | not specified | 2022-11-15 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.57107G>A (p.Arg19036Gln) results in a conservative amino acid change located in the A-band region 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 0.00012 in 248302 control chromosomes (gnomAD). To our knowledge, no occurrence of c.57107G>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submitters have assessed the variant since 2014: three classified the variant as uncertain significance and one as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Revvity Omics, |
RCV000733639 | SCV003825880 | likely benign | not provided | 2023-02-24 | criteria provided, single submitter | clinical testing |