ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50076C>T (p.Asp16692=)

gnomAD frequency: 0.00001  dbSNP: rs397517598
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Total submissions: 6
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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 RCV000040309 SCV000064000 likely benign not specified 2012-03-20 criteria provided, single submitter clinical testing Asp14124Asp in exon 215 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Asp14124Asp in exon 215 of TTN (allele fre quency = n/a)
Genetic Services Laboratory, University of Chicago RCV000040309 SCV000597653 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525959 SCV000643285 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490562 SCV002798809 likely benign 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 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162348 SCV003883422 likely benign Cardiovascular phenotype 2023-02-16 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.
PreventionGenetics, part of Exact Sciences RCV004534903 SCV004735334 likely benign TTN-related disorder 2023-10-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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