Submissions for variant NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)

gnomAD frequency: 0.00004  dbSNP: rs397517687

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040561	SCV000064252	uncertain significance	not specified	2012-09-21	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Thr21015Lys var iant in TTN has not previously been identified in our laboratory or in the liter ature. Threonine (Thr) at amino acid 21015 is not well conserved and this varian t (Thr21015Lys) is present in rat, suggesting that a change to this position may be tolerated. Computational analyses (biochemical amino acid properties, AlignG VGD, PolyPhen2, and SIFT) also suggest that the Thr21015Lys variant may not impa ct the protein, though this information is not predictive enough to rule out pat hogenicity. In summary, this variant is less likely disease causing but addition al studies are needed to establish this with confidence.
Invitae	RCV000469845	SCV000542945	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-07-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764320	SCV000895339	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	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311960	SCV001502356	uncertain significance	not provided	2020-10-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798178	SCV002042625	uncertain significance	Cardiomyopathy	2021-04-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001311960	SCV002504546	likely benign	not provided	2019-09-11	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Revvity Omics, Revvity	RCV001311960	SCV003825586	uncertain significance	not provided	2023-09-26	criteria provided, single submitter	clinical testing