ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4757G>T (p.Arg1586Leu) (rs369890906)

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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 RCV000213104 SCV000271949 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing The p.Arg1586Leu variant in LOXHD1 has not been previously reported in individua ls with hearing loss. This variant has been identified in 1/2864 of African chro mosomes and in 1/9204 of European chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs369890906); though this frequen cy is not high enough to rule out pathogenicity. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg1586Leu varia nt is uncertain.

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