ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64326G>A (p.Ala21442=)

gnomAD frequency: 0.00007  dbSNP: rs377109969
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Total submissions: 5
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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 RCV000221753 SCV000271055 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing p.Ala18874Ala in exon 257 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 10/66668 Europea n chromosomes and 2/8520 East Asian chromosomes by the Exome Aggregation Consort ium (ExAC, http://exac.broadinstitute.org; dbSNP rs377109969) as well as in 1/33 14 African American chromosomes by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS).
Invitae RCV000865626 SCV001006620 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001547130 SCV001766764 likely benign not provided 2019-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354599 SCV002624954 likely benign Cardiovascular phenotype 2019-12-05 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.
Fulgent Genetics, Fulgent Genetics RCV002500703 SCV002803579 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 2021-07-20 criteria provided, single submitter clinical testing

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