ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57415A>C (p.Ile19139Leu)

gnomAD frequency: 0.00001  dbSNP: rs397517629
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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 RCV000040392 SCV000064083 uncertain significance not specified 2012-05-31 criteria provided, single submitter clinical testing The Ile16571Leu variant in TTN has not been identified in large and broad popula tions screened by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS). This low frequency is consistent with a disease causing role but insuff icient to establish this with confidence. Computational analyses (biochemical am ino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ile16571Leu variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the Ile16571Leu variant.

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