ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97111A>G (p.Ile32371Val)

gnomAD frequency: 0.00003  dbSNP: rs397517766
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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 RCV000040849 SCV000064540 uncertain significance not specified 2011-12-16 criteria provided, single submitter clinical testing The Ile29803Val variant in TTN has not been reported in the literature nor but h as been detected by our laboratory in 1 individual with cardiomyopathy (type uns pecified) who carried another variant of unknown significance. Isoleucine at po sition 29803 is conserved across mammals but conservation data is not available for more distant species. This data is insufficient to estimate the impact of t his variant to the protein. Computational analyses (AlignGVGD and SIFT) provide inconsistent predictions (their accuracy is unknown). Additional data is needed to determine the clinical significance of this variant.

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