ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.277G>A (p.Asp93Asn) (rs747038125)

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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 RCV000616593 SCV000732021 uncertain significance not specified 2017-11-22 criteria provided, single submitter clinical testing The p.Asp93Asn variant in LOXHD1 has not been previously reported in individuals with hearing loss, but has been identified in 4/11864 East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSN P rs747038125). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analysis suggest that the p.Asp93Asn variant may impact the protein, though this information is not predictive enough to determin e pathogenicity. In summary, the clinical significance of the p.Asp93Asn variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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