ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1912G>A (p.Val638Met) (rs876657854)

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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 RCV000220888 SCV000271928 uncertain significance not specified 2015-02-16 criteria provided, single submitter clinical testing The p.Val638Met variant in LOXHD1 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analyses suggest that the p.Val638Met variant may impact the protein, though this information is not predictive enough to dete rmine pathogenicity. In summary, the clinical significance of the p.Val638Met va riant is uncertain.

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