Submissions for variant NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)

gnomAD frequency: 0.00005  dbSNP: rs568322187

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000470665	SCV000542424	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593972	SCV000709576	uncertain significance	not provided	2017-06-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000593972	SCV001962323	uncertain significance	not provided	2021-09-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798820	SCV002043050	uncertain significance	Cardiomyopathy	2020-08-31	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV000593972	SCV002503102	uncertain significance	not provided	2021-12-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002480350	SCV002775111	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	2021-11-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533146	SCV004108668	uncertain significance	TTN-related disorder	2022-11-01	criteria provided, single submitter	clinical testing	The TTN c.90452T>C variant is predicted to result in the amino acid substitution p.Leu30151Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0041% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179417175-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Clinical Genetics, Academic Medical Center	RCV000593972	SCV001925711	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000593972	SCV001926423	uncertain significance	not provided		no assertion criteria provided	clinical testing