ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25134A>G (p.Ala8378=)

gnomAD frequency: 0.00122  dbSNP: rs371819104
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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 RCV000040023 SCV000063714 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala7134Ala in exon 84 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.3% (8/2996) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Ala7134Ala in exon 84 of TTN (allel e frequency = 0.3%, 8/2996) **
Eurofins Ntd Llc (ga) RCV000040023 SCV000232854 likely benign not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000040023 SCV000236746 benign not specified 2014-06-26 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 RCV000538913 SCV000642868 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769052 SCV000900425 benign Cardiomyopathy 2016-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839548 SCV002102046 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839549 SCV002102047 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839550 SCV002102048 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839547 SCV002102049 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000040023 SCV001917590 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727540 SCV001969651 likely benign not provided no assertion criteria provided clinical testing

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