ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)

gnomAD frequency: 0.00086  dbSNP: rs186105748
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154947 SCV000204629 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asp12360Asp in exon 191 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 0.3% (9/3042) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS).
Invitae RCV001086116 SCV000643196 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618851 SCV000736574 likely benign Cardiovascular phenotype 2016-05-17 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.
Athena Diagnostics Inc RCV000714034 SCV000844697 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000714034 SCV001940457 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840148 SCV002100704 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840149 SCV002100705 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840150 SCV002100706 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840147 SCV002100707 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484929 SCV002802673 likely benign 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 2022-05-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154947 SCV004038656 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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