ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) (rs191708454)

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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 RCV000152478 SCV000201604 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing The Thr3295Met variant in TTN has not been reported in individuals with cardiomy opathy, but has been identified in 1/120 Colombian chromosomes by the 1000 Genom es Project (dbSNP rs191708454). Threonine (Thr) at position 3295 is not well con served in evolution and 1 mammalian species (squirrel) carries the variant amino acid (Met), raising the possibility that this change may be tolerated. Addition al computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhe n2, and SIFT) do not provide strong support for or against an impact to the prot ein. Additional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV000152478 SCV000238071 likely benign not specified 2017-04-14 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.
Invitae RCV000540226 SCV000643999 likely benign not provided 2019-01-07 criteria provided, single submitter clinical testing

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