ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn)

dbSNP: rs374163882
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040424 SCV000064115 uncertain significance not specified 2017-01-27 criteria provided, single submitter clinical testing The p.Asp17335Asn variant in TTN has been identified by our laboratory in one Ca ucasian individual with DCM. However, this individual also had an additional pat hogenic variant on the same copy of the TTN gene (in cis). This variant was abse nt from large population studies. Computational prediction tools and conservatio n analysis do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Asp17335Asn variant is uncertai n.
GeneDx RCV000040424 SCV000237356 uncertain significance not specified 2015-06-12 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 panel(s).
Fulgent Genetics, Fulgent Genetics RCV002483015 SCV002792666 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 2021-10-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149650 SCV003838648 likely benign Cardiomyopathy 2022-12-07 criteria provided, single submitter clinical testing

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