ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr)

gnomAD frequency: 0.00001  dbSNP: rs397517585
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Total submissions: 3
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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 RCV000040268 SCV000063959 uncertain significance not specified 2012-06-30 criteria provided, single submitter clinical testing The Ile12819Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory or in 2 large and broad populations (European and African American) screened by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). This low frequency is consistent with a disease causin g role but insufficient to establish this with confidence. The affected amino ac id is not well conserved in evolution, suggesting that a change may be tolerated . Other computational analyses (biochemical amino acid properties, AlignGVGD, Po lyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical signific ance of the Ile12819Thr variant.
Invitae RCV000553444 SCV000643210 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726986 SCV000704713 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing

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