ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52667G>A (p.Ser17556Asn)

gnomAD frequency: 0.00001  dbSNP: rs750715335
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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 RCV000600193 SCV000712436 uncertain significance not specified 2016-08-11 criteria provided, single submitter clinical testing The p.Ser14988Asn variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/58268 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s750715335). Computational prediction tools and conservation analysis suggest th at the p.Ser14988Asn variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Ser14988Asn variant is unknown.
Mayo Clinic Laboratories, Mayo Clinic RCV004791620 SCV005413084 uncertain significance not provided 2024-07-22 criteria provided, single submitter clinical testing

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