ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) (rs55634230)

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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 RCV000040955 SCV000064646 uncertain significance not specified 2012-11-21 criteria provided, single submitter clinical testing The Val3250Gly variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant is listed in dbSNP (rs55634230) without frequency information. Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Val3250 Gly variant may impact the protein, though this information is not predictive en ough to determine pathogenicity. Additional information is needed to fully asses s the clinical significance of the Val3250Gly variant.
Invitae RCV000230763 SCV000286946 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000040955 SCV000721896 likely benign not specified 2017-08-16 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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