ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro)

gnomAD frequency: 0.00074  dbSNP: rs139172299
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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 RCV000172714 SCV000051325 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216676 SCV000269943 benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Gln4620Pro in exon 46 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.2% (188/8576) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs139172299).
GeneDx RCV000172714 SCV000238124 not provided not provided 2014-10-03 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 CARDIOMYOPATHY,DCM-CRDM panel(s).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172714 SCV001797335 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000216676 SCV001922130 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000216676 SCV001955008 benign not specified no assertion criteria provided clinical testing

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