ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)

gnomAD frequency: 0.00004  dbSNP: rs369526268
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721160 SCV000237487 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Invitae RCV000643517 SCV000765204 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764321 SCV000895340 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721160 SCV001474243 uncertain significance not provided 2020-04-30 criteria provided, single submitter clinical testing The TTN c.70570A>G; p.Thr23524Ala variant (rs369526268; ClinVar Variation ID: 202827) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Thr23524Ala variant cannot be determined with certainty. REFERENCES Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11). Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28. Linke WA and Hamdani N. Gigantic business: titin properties and function through thick and thin. Circ Res 2014; 114(6): 1052-1068.
Revvity Omics, Revvity RCV001721160 SCV003819741 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001721160 SCV004225821 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing BP4

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