ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)

gnomAD frequency: 0.00011  dbSNP: rs72648234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184934 SCV000237700 uncertain significance not specified 2014-06-20 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).
Eurofins Ntd Llc (ga) RCV000725754 SCV000701122 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643904 SCV000765591 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354514 SCV002661318 likely benign Cardiovascular phenotype 2019-10-17 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.
Revvity Omics, Revvity RCV000725754 SCV003818441 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing

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