ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln)

gnomAD frequency: 0.00004  dbSNP: rs186809500
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Total submissions: 4
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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 RCV000152278 SCV000201130 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing The Arg16756Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/200 Southern Han Chinese chromo somes by the 1000 Genomes Project (dbSNP rs186809500). Computational prediction tools and conservation analysis suggest that this variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the Arg16756Gln variant is uncertain.
GeneDx RCV001537817 SCV000725189 likely benign not provided 2019-07-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Ambry Genetics RCV002319447 SCV002606805 likely benign Cardiovascular phenotype 2019-06-24 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.
Revvity Omics, Revvity RCV001537817 SCV003818522 uncertain significance not provided 2020-12-07 criteria provided, single submitter clinical testing

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