Submissions for variant NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)

gnomAD frequency: 0.00043  dbSNP: rs201622536

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725081	SCV000237108	likely benign	not provided	2020-10-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725081	SCV000333853	uncertain significance	not provided	2017-12-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000560087	SCV000643024	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2018-01-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000280444	SCV000710960	likely benign	not specified	2017-07-27	criteria provided, single submitter	clinical testing	p.Arg10223Gln in exon 145 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, gibbon, naked mole rat, chinchilla, cat, shrew, and manatee have a Gln at this position despite high nearby amino acid conservation. In addition, computa tional prediction tools do not suggest a high likelihood of impact to the protei n. It has also been identified in 19/20406 African chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201622536).
Revvity Omics, Revvity	RCV000725081	SCV003825522	uncertain significance	not provided	2022-02-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000280444	SCV004038645	uncertain significance	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000280444	SCV005622522	likely benign	not specified	2024-10-17	criteria provided, single submitter	clinical testing