ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4423G>T (p.Gly1475Trp) (rs779091317)

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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 RCV000217034 SCV000271947 uncertain significance not specified 2015-09-30 criteria provided, single submitter clinical testing The p.Gly1475Trp variant in LOXHD1 has not been previously reported in individua ls with hearing loss. Data from large population studies is insufficient to asse ss the frequency of this variant in the general population. Computational predic tion tools and conservation analysis suggest that the p.Gly1475Trp variant may i mpact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly1475Trp varian t is uncertain.

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