Submissions for variant NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys)

gnomAD frequency: 0.00012  dbSNP: rs374444254

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172157	SCV000051276	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172157	SCV000237918	likely benign	not provided	2018-12-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23861362)
Ambry Genetics	RCV002399617	SCV002673130	uncertain significance	Cardiovascular phenotype	2019-12-15	criteria provided, single submitter	clinical testing	The p.R25573C variant (also known as c.76717C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 76717. The arginine at codon 25573 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172157	SCV001740048	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172157	SCV001970632	uncertain significance	not provided		no assertion criteria provided	clinical testing