ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)

gnomAD frequency: 0.00009  dbSNP: rs373532064
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172222 SCV000054913 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154908 SCV000204590 uncertain significance not specified 2015-03-20 criteria provided, single submitter clinical testing The p.Arg25754His variant in TTN gene has not been previously reported in indivi duals with cardiomyopathy, but has been identified at very low frequency in seve ral populations by the NHLBI Exome Sequencing Project (1/3812 African American; 1/8520 East Asian and 7/66670 chromosomes; http://evs.gs.washington.edu/EVS/; db SNPrs373532064). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg25754His variant is uncertain.
Eurofins Ntd Llc (ga) RCV000172222 SCV000228567 uncertain significance not provided 2015-03-04 criteria provided, single submitter clinical testing
Invitae RCV000542158 SCV000643790 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170552 SCV001333138 uncertain significance Cardiomyopathy 2018-01-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000172222 SCV001714633 uncertain significance not provided 2019-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000172222 SCV001814782 likely benign not provided 2019-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Ambry Genetics RCV002354370 SCV002652111 uncertain significance Cardiovascular phenotype 2018-05-30 criteria provided, single submitter clinical testing The p.R19257H variant (also known as c.57770G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 57770. The arginine at codon 19257 is replaced by histidine, an amino acid with highly similar properties. This alteration (reported as p.R25754H) has been detected as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000172222 SCV003819213 uncertain significance not provided 2019-11-13 criteria provided, single submitter clinical testing

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