ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp)

gnomAD frequency: 0.00004  dbSNP: rs727504736
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Total submissions: 3
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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 RCV000156033 SCV000205746 uncertain significance not specified 2015-01-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg5938Trp va riant in TTN has not been previously reported in any other families with cardiom yopathy. This variant has been identified in 8/11348 Latino chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Arginine (Ar g) at position 5938 is not conserved in mammals or in evolutionarily distant spe cies and one primate (gorilla) has a tryptophan (Trp) at this position, raising the possibility that this change is tolerated. In summary, while the clinical si gnificance of the p.Arg5938Trp variant is uncertain, the presence of the variant amino acid in another primate as well as its the presence in the general popula tion suggests that it is more likely to be benign.
GeneDx RCV001568596 SCV001792500 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001568596 SCV003821107 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing

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