Submissions for variant NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)

dbSNP: rs189286381

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172684	SCV000055036	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040097	SCV000063788	uncertain significance	not specified	2012-08-13	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Ala8736Thr vari ant in TTN has been identified in 0.8% (3/394) of Han Chinese chromosomes from a broad population by the 1000 Genomes project (dbSNP rs189286381). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2 , and SIFT) do not provide strong support for or against an impact to the protei n. While the variant?s frequency suggests that this variant is more likely benig n, it is too low to confidently rule out a disease causing role. Additional info rmation is needed to fully assess the clinical significance of the Ala8736Thr va riant.
GeneDx	RCV000172684	SCV000237050	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27066551, 24503780, 32464347)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078743	SCV000555401	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000040097	SCV000605485	likely benign	not specified	2016-12-09	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000040097	SCV000705764	likely benign	not specified	2017-01-31	criteria provided, single submitter	clinical testing