ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4957G>C

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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 RCV000825359 SCV000966654 uncertain significance not specified 2018-06-05 criteria provided, single submitter clinical testing The p.Gly1653Arg variant in LOXHD1 has not been previously reported in individua ls with hearing loss but, has been identified in 16/73382 European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs374897301). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational p rediction tools and conservation analysis suggest that the p.Gly1653Arg variant may impact the protein, though this information is not predictive enough to dete rmine pathogenicity. In summary, the clinical significance of the p.Gly1653Arg v ariant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.

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