ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)

gnomAD frequency: 0.00046  dbSNP: rs398124448
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082394 SCV000114377 uncertain significance not provided 2013-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000467432 SCV000542979 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765579 SCV000896894 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 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000082394 SCV000237119 not provided not provided 2013-10-30 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082394 SCV001743836 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001705786 SCV001925215 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000082394 SCV001970822 likely benign not provided no assertion criteria provided clinical testing

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