ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26020G>A (p.Val8674Ile)

gnomAD frequency: 0.00003  dbSNP: rs375710902
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Total submissions: 1
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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 RCV000616829 SCV000710962 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val7430Ile va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 3/9796 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375710902). Valine (V al) at position 7430 is not conserved in mammals or evolutionarily distant speci es and one mammal (gibbon) and 14 bird species carry an isoleucine (Ile) at this position, supporting that this change may be tolerated. In summary, while the c linical significance of the p.Val7430Ile variant is uncertain, these data sugges t that it is more likely to be benign.

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