Submissions for variant NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)

dbSNP: rs200972189

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040022	SCV000063713	uncertain significance	not specified	2012-03-16	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Ala7119Ser vari ant in TTN has been identified in 0.2% (7/2996) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS). Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. While this frequency suggests that Ala7119Ser variant is more likely benign, it is too low to confidently rule out a disease c ausing role. Additional information is needed to fully assess its clinical signi ficance.
Genetic Services Laboratory, University of Chicago	RCV000118744	SCV000153211	uncertain significance	not provided	2013-08-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000118744	SCV000238358	likely benign	not provided	2020-06-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087646	SCV000555200	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040022	SCV000616032	uncertain significance	not specified	2017-06-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118744	SCV000855157	uncertain significance	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040022	SCV001921327	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000040022	SCV001970977	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541139	SCV004758559	likely benign	TTN-related disorder	2023-06-27	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).