ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) (rs373527448)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152275 SCV000201125 uncertain significance not specified 2014-08-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr16829Met var iant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/3818 African American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs373527448). Th e threonine (Thr) at position 16829 is not conserved in mammals or evolutionaril y distant species and at least 7 fish species carry a methionine (Met) at this p osition, raising the possibility that this change may be tolerated. In summary, while the clinical significance of the Thr16829Met variant is uncertain, these d ata suggest that it is more likely to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723958 SCV000228181 uncertain significance not provided 2014-06-02 criteria provided, single submitter clinical testing
Invitae RCV000643314 SCV000765001 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000723958 SCV000984154 likely benign not provided 2018-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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