ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6136G>A

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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 RCV000825642 SCV000967012 uncertain significance not specified 2018-04-17 criteria provided, single submitter clinical testing The p.Glu2046Lys variant in LOXHD1 has not been previously reported in individua ls with hearing loss, but has been identified in 2/57840 of European and 1/22822 of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://g nomad.broadinstitute.org; dbSNP rs774836161). Computational prediction tools and conservation analysis suggest that the p.Glu2046Lys variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, the clinical significance of the p.Glu2046Lys variant is uncertain . ACMG/AMP Criteria applied: PM2_Supporting; PP3.

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