Submissions for variant NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)

gnomAD frequency: 0.00009  dbSNP: rs397517746

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040762	SCV000064453	uncertain significance	not specified	2012-01-03	criteria provided, single submitter	clinical testing	The Val27415Met variant (TTN) has not been previously reported nor previously id entified by our laboratory. Valine (Val) at position 27415 is highly conserved i n mammals and across evolutionarily distant species, increasing the likelihood t hat a change would not be tolerated. Computational predictions on the impact to the protein are mixed (AlignGVGD = benign, SIFT = pathogenic), though the accura cy of these tools is unknown. Additional information is needed to fully assess t he clinical significance of the Val27415Met variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458878	SCV000542543	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733290	SCV000861337	uncertain significance	not provided	2018-05-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362639	SCV002660825	likely benign	Cardiovascular phenotype	2020-07-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics	RCV000733290	SCV002770564	uncertain significance	not provided	2021-07-16	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000733290	SCV003819205	uncertain significance	not provided	2019-03-27	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003147329	SCV003835296	uncertain significance	Early-onset myopathy with fatal cardiomyopathy	2022-07-05	criteria provided, single submitter	clinical testing
Department of Clinical Pathology, School of Medicine, Fujita Health University	RCV004558291	SCV004218312	likely benign	EBV-positive nodal T- and NK-cell lymphoma		no assertion criteria provided	research