ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.601G>A (p.Gly201Arg) (rs727504992)

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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 RCV000156411 SCV000206129 uncertain significance not specified 2014-03-06 criteria provided, single submitter clinical testing The Gly201Arg variant in LOXHD1 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses suggest that the Gly201Arg variant may impact the protein, though this information is not predictive enough to determin e pathogenicity. In summary, additional information is needed to determine the clinical significance of this variant.

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