ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)

gnomAD frequency: 0.00024  dbSNP: rs188996850
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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
GeneDx RCV000733639 SCV000725412 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733639 SCV000861729 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 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, LabCorp 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, Revvity Omics RCV000733639 SCV003825880 likely benign not provided 2023-02-24 criteria provided, single submitter clinical testing

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