Submissions for variant NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)

gnomAD frequency: 0.00007  dbSNP: rs371908649

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000548564	SCV000642490	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-07-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384153	SCV002674397	uncertain significance	Cardiovascular phenotype	2017-12-16	criteria provided, single submitter	clinical testing	The p.R24401C variant (also known as c.73201C>T), located in coding exon 184 of the TTN gene, results from a C to T substitution at nucleotide position 73201. The arginine at codon 24401 is replaced by cysteine, an amino acid with highly dissimilar 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.
Baylor Genetics	RCV003333077	SCV004041204	uncertain significance	Dilated cardiomyopathy 1G	2023-05-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702801	SCV001930002	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702801	SCV001972054	uncertain significance	not provided		no assertion criteria provided	clinical testing