ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu) (rs397517792)

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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, Partners HealthCare Personalized Medicine RCV000040948 SCV000064639 uncertain significance not specified 2012-06-06 criteria provided, single submitter clinical testing The Pro3238Leu variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has not been identified in 2 ver y large and broad populations (European and African American) screened by the NH LBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational a nalyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Pro3238Leu variant may impact the protein, though thi s information is not predictive enough to determine pathogenicity. Although the low frequency and computational predictions of this variant are consistent with a possible disease causing role, additional information is needed to fully asses s the clinical significance of the Pro3238Leu variant.
Genetic Services Laboratory, University of Chicago RCV000040948 SCV000249293 uncertain significance not specified 2015-07-17 criteria provided, single submitter clinical testing
Invitae RCV000536899 SCV000643970 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-02-24 criteria provided, single submitter clinical testing

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