Submissions for variant NM_001267550.2(TTN):c.30683-2A>T

gnomAD frequency: 0.00604  dbSNP: rs886043892

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000351863	SCV000342530	uncertain significance	not provided	2016-09-15	criteria provided, single submitter	clinical testing
Invitae	RCV000819568	SCV000960235	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2018-07-17	criteria provided, single submitter	clinical testing	This sequence change affects an acceptor splice site in intron 111 of the TTN gene. It is expected to disrupt RNA splicing. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the I band of TTN (PMID: 25589632). Truncating variants in this region have been shown to be highly prevalent in the general population and unaffected individuals (PMID: 26701604, 22335739). However, truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). This variant has not been reported in the literature in individuals with TTN-related disease. ClinVar contains an entry for this variant (Variation ID: 288424).
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	RCV002226704	SCV002505687	likely pathogenic	Tip-toe gait	2022-01-19	no assertion criteria provided	clinical testing