Submissions for variant NM_001267550.2(TTN):c.28643C>T (p.Thr9548Met)

gnomAD frequency: 0.00003  dbSNP: rs752064053

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733507	SCV000861584	uncertain significance	not provided	2018-06-05	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000733507	SCV003819007	uncertain significance	not provided	2019-04-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000733507	SCV004562568	uncertain significance	not provided	2023-09-28	criteria provided, single submitter	clinical testing	The TTN c.28643C>T; p.Thr9548Met variant (rs752064053; ClinVar Variation ID: 597401) is rare in the general population (<0.2% 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.Thr9548Met variant cannot be determined with certainty.