Submissions for variant NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)

gnomAD frequency: 0.00009  dbSNP: rs368692616

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV002488466	SCV002792282	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-11-12	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001699930	SCV003822923	uncertain significance	not provided	2019-07-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003331191	SCV004038635	uncertain significance	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699930	SCV001926215	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699930	SCV001974118	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542086	SCV004792463	uncertain significance	TTN-related disorder	2023-11-05	no assertion criteria provided	clinical testing	The TTN c.17437T>A variant is predicted to result in the amino acid substitution p.Cys5813Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179596056-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.