Submissions for variant NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)

gnomAD frequency: 0.00001  dbSNP: rs773561397

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000617509	SCV000736911	uncertain significance	Cardiovascular phenotype	2017-09-13	criteria provided, single submitter	clinical testing	The p.F24483L variant (also known as c.73447T>C), located in coding exon 184 of the TTN gene, results from a T to C substitution at nucleotide position 73447. The phenylalanine at codon 24483 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV001508099	SCV001714023	uncertain significance	not provided	2020-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001508099	SCV001814231	likely benign	not provided	2020-06-05	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001508099	SCV004237408	uncertain significance	not provided	2023-03-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001508099	SCV004701601	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001508099	SCV001797484	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001508099	SCV001918227	uncertain significance	not provided		no assertion criteria provided	clinical testing