Submissions for variant NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)

gnomAD frequency: 0.00009  dbSNP: rs759474127

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223043	SCV000272794	uncertain significance	not specified	2015-10-22	criteria provided, single submitter	clinical testing	The p.Val27749Ala variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 2/11568 Latino chromosomes and 1 /9802 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org). Computational prediction tools and conservation analysis d o not provide strong support for or against an impact to the protein. In summary , the clinical significance of the p.Val27749Ala variant is uncertain.
Athena Diagnostics	RCV000223043	SCV000616172	uncertain significance	not specified	2017-05-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001569293	SCV001793339	likely benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001569293	SCV003824169	uncertain significance	not provided	2023-12-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001569293	SCV001978869	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001569293	SCV001979795	uncertain significance	not provided		no assertion criteria provided	clinical testing