ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) (rs397517719)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040663 SCV000064354 uncertain significance not specified 2013-07-05 criteria provided, single submitter clinical testing The Glu24427Lys variant in TTN has been identified by our laboratory in 1 Caucas ian individual with DCM (LMM unpublished data) and was not identified in large p opulation studies. Glutamic acid (Glu) at position 24427 is not well conserved i n evolution and 1 species (zebra finch) carries a lysine (Lys; this variant) at this position, raising the possibility that this change may be tolerated. Other computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen, and SIFT) do not provide strong support for or against an impact to the protein. At this time, additional information is needed to fully assess the clinical sig nificance of this variant.
GeneDx RCV000040663 SCV000237607 likely benign not specified 2017-07-31 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726121 SCV000342142 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Invitae RCV000726121 SCV000643741 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617992 SCV000737292 uncertain significance Cardiovascular phenotype 2017-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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