ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49008G>A (p.Val16336=)

gnomAD frequency: 0.00004  dbSNP: rs781078888
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Total submissions: 4
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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 RCV000213252 SCV000271030 likely benign not specified 2015-05-29 criteria provided, single submitter clinical testing p.Val13768Val in exon 210 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 6/66286 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
Invitae RCV000643102 SCV000764789 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427001 SCV002730478 likely benign Cardiovascular phenotype 2020-03-24 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.
Fulgent Genetics, Fulgent Genetics RCV002494563 SCV002798454 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 2021-08-17 criteria provided, single submitter clinical testing

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