Submissions for variant NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln)

gnomAD frequency: 0.00002  dbSNP: rs775700218

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000642973	SCV000764660	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001552089	SCV001772715	uncertain significance	not provided	2023-06-08	criteria provided, single submitter	clinical testing	Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (Herman et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22335739)
Athena Diagnostics	RCV001552089	SCV001879655	uncertain significance	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816598	SCV002066892	uncertain significance	not specified	2017-11-13	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001552089	SCV003827287	uncertain significance	not provided	2021-02-25	criteria provided, single submitter	clinical testing