Submissions for variant NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)

gnomAD frequency: 0.00001  dbSNP: rs397517523

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040068	SCV000063759	uncertain significance	not specified	2011-12-19	criteria provided, single submitter	clinical testing	The Thr8004Asn variant (TTN) has not been previously reported but has been ident ified by our laboratory in 1 individual with HCM (note: the role of TTN in HCM i s currently not understood). Threonine (Thr) at position 8004 is moderately cons erved, which does not provide sufficient evidence to determine if a change would impact the protein. Computational predictions on the impact to the protein are mixed (AlignGVGD = benign, SIFT = pathogenic), though the accuracy of these tool s is unknown. Additional information is needed to fully assess the clinical sign ificance of the Thr8004Asn variant.
Ambry Genetics	RCV000244039	SCV000317956	uncertain significance	Cardiovascular phenotype	2013-01-13	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Fulgent Genetics, Fulgent Genetics	RCV002496643	SCV002812737	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	2021-08-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430647	SCV004152504	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	TTN: BP4