Submissions for variant NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)

gnomAD frequency: 0.00003  dbSNP: rs373815064

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000831508	SCV000973259	likely benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000831508	SCV001146432	uncertain significance	not provided	2019-02-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429198	SCV002743431	uncertain significance	Cardiovascular phenotype	2020-03-25	criteria provided, single submitter	clinical testing	The p.A8982V variant (also known as c.26945C>T), located in coding exon 107 of the TTN gene, results from a C to T substitution at nucleotide position 26945. The alanine at codon 8982 is replaced by valine, an amino acid with similar properties. This variant co-occurred with an MYH7 mutation in an individual from a hypertrophic cardiomyopathy cohort (Lopes LR et al. J. Med. Genet., 2013 Apr;50:228-39). This amino acid position is highly 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.
Revvity Omics, Revvity	RCV000831508	SCV003827213	uncertain significance	not provided	2019-11-19	criteria provided, single submitter	clinical testing
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen	RCV000491413	SCV000298125	uncertain significance	Dilated cardiomyopathy 1S	2016-05-01	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000831508	SCV001926051	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000831508	SCV001931910	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000831508	SCV001959266	uncertain significance	not provided		no assertion criteria provided	clinical testing