ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)

gnomAD frequency: 0.00004  dbSNP: rs143265948
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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 RCV000152499 SCV000201654 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala2054Ala in exon 28 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 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs143265948). Ala2054Ala in exon 28 of TTN (rs143265948; allele frequency = 1/7020) **
Invitae RCV001089353 SCV000286764 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152499 SCV000315541 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242688 SCV000318631 likely benign Cardiovascular phenotype 2013-05-15 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.
GeneDx RCV000152499 SCV000515081 benign not specified 2015-07-16 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.
CeGaT Center for Human Genetics Tuebingen RCV003456356 SCV001153179 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Genome-Nilou Lab RCV001840116 SCV002101461 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840117 SCV002101462 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840118 SCV002101463 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840115 SCV002101464 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498716 SCV002811869 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 2021-07-26 criteria provided, single submitter clinical testing

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