ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)

gnomAD frequency: 0.00054  dbSNP: rs200121902
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085352 SCV000555325 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595403 SCV000708841 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000595403 SCV000970539 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429571 SCV002728785 benign Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000595403 SCV003822312 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404598 SCV006069246 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735548 SCV005343799 likely benign TTN-related disorder 2024-06-20 no assertion criteria provided 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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