ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) (rs558670891)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156205 SCV000205921 likely benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Ile18109Thr variant in TTN is classified as likely benign because it has been identified in 0.03% (10/30594) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000184687 SCV000338418 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000184687 SCV000237382 not provided not provided 2014-04-08 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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