ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val)

gnomAD frequency: 0.00001  dbSNP: rs374625641
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Total submissions: 2
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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 RCV000154982 SCV000204664 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing The p.Ala5832Val variant in TTN has been identified by our laboratory in 1 Cauca sian individual with HCM and Afib. This variant has been identified in 1/9786 Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs374625641). Computational prediction tools and conservation analysis suggest that the p.Ala5832Val variant may not impact the protein, thou gh this information is not predictive enough to rule out pathogenicity. In summa ry, the clinical significance of the p.Ala5832Val variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002484930 SCV002789109 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 2021-11-01 criteria provided, single submitter clinical testing

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