ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13295A>G (p.Asn4432Ser)

dbSNP: rs397517808
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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 RCV000041020 SCV000064711 uncertain significance not specified 2021-02-03 criteria provided, single submitter clinical testing The p.Asn4432Ser variant in TTN has been identified in our laboratory in one individual with infantile-onset DCM and that individual's unaffected parent. It was absent from large population studies. Computational prediction tools and conservation analyses are limited but suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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