ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) (rs397517755)

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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 RCV000040793 SCV000064484 uncertain significance not specified 2012-03-16 criteria provided, single submitter clinical testing The Glu28249Asp variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Glutamic acid (Glu) at position 28249 is con served in evolution, suggesting that a change may impact the protein. Other com putational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, an d SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of th e Glu28249Asp variant.
Invitae RCV000226810 SCV000286913 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000040793 SCV000730668 likely benign not specified 2017-11-15 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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