ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4742A>G (p.Glu1581Gly) (rs1555670255)

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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 RCV000611644 SCV000732026 uncertain significance not specified 2017-11-22 criteria provided, single submitter clinical testing The p.Glu1581Gly 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 variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the p.Glu1581Gly variant is uncertain. ACMG /AMP Criteria applied: PM2, PP3.

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