Submissions for variant NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis)

dbSNP: rs2154169263

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV001358690	SCV001554501	uncertain significance	Early-onset myopathy with fatal cardiomyopathy		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003169778	SCV003856804	uncertain significance	Cardiovascular phenotype	2022-12-07	criteria provided, single submitter	clinical testing	The c.47565_47572delCTCCAGGGinsAC variant, located in coding exon 153 of the TTN gene, results from an in-frame deletion of CTCCAGGG and insertion of AC at nucleotide positions 47565 to 47572. This results in the substitution of the residue for a histidine residue at codon 15856, an amino acid with highly similar properties. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV004697119	SCV005198624	uncertain significance	not provided	2022-05-27	criteria provided, single submitter	clinical testing