ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3874C>T (p.Leu1292Phe) (rs200792636)

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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 RCV000608708 SCV000712535 uncertain significance not specified 2016-10-25 criteria provided, single submitter clinical testing The p.Leu1292Phe variant in LOXHD1 has not been reported in any individual with hearing loss, but has been reported in 1 individual with Fuchs corneal dystrophy (Riazuddin 2012). This variant has also been identified in 1/8764 European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs200792636). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summar y, the clinical significance of the p.Leu1292Phe variant is uncertain.

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