ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1049A>G (p.Tyr350Cys)

gnomAD frequency: 0.00001  dbSNP: rs563369722
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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 RCV004017522 SCV000272579 uncertain significance not provided 2021-01-26 criteria provided, single submitter clinical testing The p.Tyr350Cys variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 0.003% (1/30616) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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