ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1469G>A (p.Arg490Gln) (rs397517860)

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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 RCV000041189 SCV000064880 uncertain significance not specified 2013-02-05 criteria provided, single submitter clinical testing The Arg490Gln variant in LOXHD1 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.

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