ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)

gnomAD frequency: 0.00002  dbSNP: rs749312983
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087627 SCV000555537 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595322 SCV000700950 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000595322 SCV001473092 uncertain significance not provided 2020-05-28 criteria provided, single submitter clinical testing The TTN c.53261T>C; p.Phe17754Ser variant (rs749312983; ClinVar Variation ID: 413198 ) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Phe17754Ser variant cannot be determined with certainty.
GeneDx RCV000595322 SCV001817085 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000595322 SCV003824279 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing

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