ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)

gnomAD frequency: 0.00010  dbSNP: rs368023868
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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 RCV000040676 SCV000064367 uncertain significance not specified 2012-12-11 criteria provided, single submitter clinical testing The Val24786Gly variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3722 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemic al amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not p rovide strong support for or against an impact to the protein. Additional inform ation is needed to fully assess the clinical significance of the Val24786Gly var iant.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040676 SCV002104051 uncertain significance not specified 2022-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345316 SCV002654350 likely benign Cardiovascular phenotype 2019-07-10 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 RCV002477124 SCV002781471 uncertain significance 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 2021-11-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137569 SCV003818393 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing

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