ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)

gnomAD frequency: 0.00003  dbSNP: rs544353741
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184962 SCV000237737 uncertain significance not specified 2014-02-17 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 DCM-CRDM panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000951969 SCV001098430 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170307 SCV001332876 benign Cardiomyopathy 2018-03-28 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293132 SCV001434122 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Revvity Omics, Revvity RCV003137740 SCV003818461 uncertain significance not provided 2020-08-05 criteria provided, single submitter clinical testing

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