ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4756C>T (p.Arg1586Cys) (rs773223976)

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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 RCV000613273 SCV000712590 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing The p.Arg1586Cys variant in LOXHD1 has not been previously reported in individua ls with hearing loss or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Arg1586Cys variant may impact t he protein, though this information is not predictive enough to determine pathog enicity. In summary, the clinical significance of the p.Arg1586Cys variant is un certain.

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