ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14489A>G (p.Gln4830Arg)

gnomAD frequency: 0.00094  dbSNP: rs144905085
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Total submissions: 6
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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 RCV000172710 SCV000051500 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152443 SCV000201520 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gln4830Arg in Exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (12/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs144905085).
Eurofins Ntd Llc (ga) RCV000152443 SCV000702897 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172710 SCV001746687 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing TTN: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003952735 SCV004771669 likely benign TTN-related condition 2022-03-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx RCV000172710 SCV000238130 not provided not provided 2014-10-29 no assertion provided clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s).

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