ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) (rs397517033)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038241 SCV000061909 uncertain significance not specified 2012-02-21 criteria provided, single submitter clinical testing The Leu260Gln variant (TGFBR1) has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, PolyPhen2, and SIFT) suggest that the Leu260Gln var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In the absence of additional information, the clinical significance of the this variant cannot be assessed at this time.

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