ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)

gnomAD frequency: 0.00002  dbSNP: rs749852593
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184886 SCV000237630 uncertain significance not specified 2015-12-16 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).
Invitae RCV000459776 SCV000542646 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734347 SCV000862478 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345659 SCV002651679 likely benign Cardiovascular phenotype 2020-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002485250 SCV002785349 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 2021-08-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000734347 SCV003818453 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing

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