Submissions for variant NM_001267550.2(TTN):c.40600C>T (p.Pro13534Ser)

gnomAD frequency: 0.00003  dbSNP: rs770091359

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000184497	SCV000237143	uncertain significance	not specified	2014-05-28	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)	RCV000726502	SCV000701508	uncertain significance	not provided	2016-09-29	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000726502	SCV003822258	uncertain significance	not provided	2019-09-13	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000726502	SCV001954054	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726502	SCV001969166	uncertain significance	not provided		no assertion criteria provided	clinical testing