ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)

gnomAD frequency: 0.00001  dbSNP: rs201302681
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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 RCV000222383 SCV000272668 uncertain significance not specified 2015-03-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gly14313Ala v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.2% (20/8446) of East Asian chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201302 681). Computational prediction tools and conservation analysis suggest that the p.Gly14313Ala variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. In summary, while the clinical signif icance of the p.Gly14313Ala variant is uncertain, its frequency suggests that it is more likely to be benign.
Ambry Genetics RCV000245655 SCV000318632 uncertain significance Cardiovascular phenotype 2013-05-09 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000533460 SCV000643294 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001556216 SCV001777752 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing

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