ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6011C>T (p.Thr2004Met) (rs368303635)

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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 RCV000605105 SCV000711091 uncertain significance not specified 2016-06-30 criteria provided, single submitter clinical testing The p.Thr2004Met variant in LOXHD1 has not been previously reported in individua ls with hearing loss, but has been identified in 1/2194 African chromosomes by t he Exome Aggregation Consortium (ExAC,; dbSNP rs3 68303635). Although this variant has been seen in the general population, its fr equency is not high enough to rule out a pathogenic role. Computational predicti on 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.Thr2004 Met variant is uncertain.

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