ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.663C>G (p.Asp221Glu) (rs1304841781)

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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 RCV000608411 SCV000713498 uncertain significance not specified 2017-08-17 criteria provided, single submitter clinical testing The p.Asp221Glu variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 1/15012 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/). Alt hough this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and c onservation analyses suggest that this variant may impact the protein, though th is information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp221Glu variant is uncertain.

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