ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3412G>A (p.Glu1138Lys) (rs1230147513)

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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 RCV000613040 SCV000712092 uncertain significance not specified 2017-06-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu1138Ly s variant in LOXHD1 has been reported in 1 individual with hearing loss and was confirmed in trans with a pathogenic variant on the remaining copy of LOXHD1. T his variant has not been identified in large population studies. Computational p rediction tools and conservation analyses suggest that this variant may impact t he protein, though this information is not predictive enough to determine pathog enicity. In summary, while there is some suspicion for a pathogenic role, the c linical significance of this variant is uncertain.

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