Submissions for variant NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)

gnomAD frequency: 0.00001  dbSNP: rs397517673

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040531	SCV000064222	likely benign	not specified	2012-06-06	criteria provided, single submitter	clinical testing	Ala20152Ala in exon 269 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Ala20152Ala in exon 269 of TTN (allele freq uency = n/a)
GeneDx	RCV000040531	SCV000515162	benign	not specified	2015-11-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000872762	SCV001014631	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839677	SCV002100337	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839678	SCV002100338	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839679	SCV002100339	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839676	SCV002100340	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321533	SCV002630566	likely benign	Cardiovascular phenotype	2022-06-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV003430648	SCV004150307	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7