ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4349A>G (p.Tyr1450Cys) (rs1416571809)

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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 RCV000611844 SCV000731594 uncertain significance not specified 2017-04-28 criteria provided, single submitter clinical testing The p.Tyr1450Cys variant in LOXHD1 has not been previously reported in individua ls with hearing loss and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Tyr1450Cys variant is uncertain.

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