ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6353G>A (p.Gly2118Glu) (rs763915229)

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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 RCV000613067 SCV000731809 uncertain significance not specified 2017-08-03 criteria provided, single submitter clinical testing The p.Gly2118Glu variant in LOXHD1 has been reported in the compound heterozygou s state in 1 individual with hearing loss (Zazo Seco 2017). It has been identifi ed in 4/58252 European chromosomes by the Genome Aggregation Database (gnomAD, h ttp://gnomad.broadinstitute.org/; dbSNP rs763915229). Although this variant has been seen in the general population, its frequency is not high enough to rule ou t a pathogenic role. Computational prediction tools and conservation analyses su ggest that this variant may impact the protein, though this information is not p redictive enough to determine pathogenicity. In summary, the clinical significan ce of the p.Gly2118Glu variant is uncertain.

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