Submissions for variant NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)

gnomAD frequency: 0.00045  dbSNP: rs144094650

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154871	SCV000204553	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Pro32296Pro in exon 307 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. It has been identified in 0.1% (5/3440) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs144094650). Pro32296Pro in exon 307 of TTN (rs144094650; allele frequency = 0.1%, 5/3440) **
GeneDx	RCV000154871	SCV000236702	benign	not specified	2014-09-04	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	RCV000473183	SCV000555096	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000154871	SCV000855182	likely benign	not specified	2018-07-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154871	SCV001554617	likely benign	not specified	2021-03-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840132	SCV002101953	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840133	SCV002101964	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840134	SCV002101975	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840131	SCV002101986	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399546	SCV002669947	likely benign	Cardiovascular phenotype	2019-08-01	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.
Revvity Omics, Revvity	RCV003137669	SCV003825471	uncertain significance	not provided	2019-04-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534967	SCV004750956	likely benign	TTN-related disorder	2019-09-18	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).