Submissions for variant NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)

gnomAD frequency: 0.00056  dbSNP: rs373587801

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219357	SCV000271043	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Pro16817Pro in exon 246 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.15% (35/23860) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org/; dbSNP rs373587801).
Invitae	RCV000462222	SCV000555378	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000219357	SCV000701177	likely benign	not specified	2017-04-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840349	SCV002100429	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840350	SCV002100430	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840351	SCV002100431	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840348	SCV002100433	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321834	SCV002606341	benign	Cardiovascular phenotype	2020-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences	RCV004541334	SCV004767742	likely benign	TTN-related disorder	2019-02-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).