ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2288C>T (p.Ala763Val) (rs876657858)

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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 RCV000219112 SCV000271936 uncertain significance not specified 2016-02-28 criteria provided, single submitter clinical testing The p.Ala763Val variant in LOXHD1 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analyses suggest that the p.Ala763Val variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ala763Val variant is uncertain.

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