Submissions for variant NM_001267550.2(TTN):c.92812dup (p.Arg30938fs)

dbSNP: rs1559173391

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002291696	SCV002584337	likely pathogenic	not provided	2023-05-25	criteria provided, single submitter	clinical testing	Reported with c.29963-1G>C on the opposite allele (in trans) in a patient with congenital myopathy in the published literature; the c.92812dup variant was paternally inherited but clinical information on the father was not provided (Jang et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; 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); This variant is associated with the following publications: (PMID: 22335739, 31332964)
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	RCV000757916	SCV000882767	pathogenic	Early-onset myopathy with fatal cardiomyopathy; Congenital titinopathy	2019-02-11	no assertion criteria provided	research	The proband has another variant, NG_011618.3: c.26231-1G>C.