ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1475C>T (p.Thr492Ile) (rs397517216)

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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 RCV000038732 SCV000062410 uncertain significance not specified 2012-05-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Thr492Ile varia nt in LDB3 has not been reported in the literature nor previously identified by our laboratory. Threonine at position 492 is not conserved in mammals, suggestin g that a change at this position may be tolerated. Additional computational anal yses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, addi tional information is needed to fully assess the clinical significance of the Th r492Ile variant.

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