ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2399T>A (p.Val800Glu) (rs755485250)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477945 SCV000536788 uncertain significance Deafness, autosomal recessive 77 2016-09-06 no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223125 SCV000271940 uncertain significance not specified 2014-12-15 criteria provided, single submitter clinical testing The p.Val800Glu variant in LOXHD1 has not been previously reported in individual s with hearing loss but was identified in 1/9360 of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org). Although this var iant has been seen in the general population, its frequency is not high enough t o rule out a pathogenic role. Computational prediction tools and conservation an alysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Val800Glu variant is uncertain.

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