Submissions for variant NM_001267550.2(TTN):c.8083A>T (p.Thr2695Ser)

gnomAD frequency: 0.00001  dbSNP: rs780082683

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001764917	SCV001989439	uncertain significance	not provided	2019-09-03	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics	RCV002488536	SCV002793802	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	2021-08-12	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001764917	SCV003820129	uncertain significance	not provided	2019-02-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001764917	SCV004702851	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP4