ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1828G>A (p.Glu610Lys) (rs535637788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000325848 SCV000408766 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825362 SCV000966657 uncertain significance not specified 2018-08-22 criteria provided, single submitter clinical testing The p.Glu610Lys variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 0.019% (2/10240) of East Asian c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org). This variant has also been reported in ClinVar (Variation ID 326867). Computational prediction tools and conservation analysis suggest that this vari ant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu610Ly s variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2_Supporting.

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