ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys)

gnomAD frequency: 0.00006  dbSNP: rs144690298
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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 RCV000172718 SCV000051329 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041013 SCV000064704 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Glu4076Lys in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1.5% (248/16608) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs144690298).
GeneDx RCV000041013 SCV000238104 uncertain significance not specified 2014-10-06 criteria provided, single submitter 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 CARDIOMYOPATHY panel(s).
CeGaT Center for Human Genetics Tuebingen RCV000172718 SCV004011282 benign not provided 2023-04-01 criteria provided, single submitter clinical testing TTN: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center RCV000041013 SCV001919166 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041013 SCV001965241 benign not specified no assertion criteria provided clinical testing

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