Submissions for variant NM_001267550.2(TTN):c.106375-2A>G

dbSNP: rs1553482872

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000517317	SCV000615978	likely pathogenic	not provided	2016-10-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000517317	SCV000618016	pathogenic	not provided	2023-08-24	criteria provided, single submitter	clinical testing	Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Located in the M-line region of TTN in which the majority of loss of function variants have been associated with autosomal recessive titinopathies (Carmignac et al., 2007); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17444505, 28454995)
Revvity Omics, Revvity	RCV000517317	SCV002021560	likely pathogenic	not provided	2021-02-26	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV004527388	SCV005038893	pathogenic	Dilated cardiomyopathy 1G	2024-03-14	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000985108	SCV001133079	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2J	2019-09-26	no assertion criteria provided	clinical testing