ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5437G>A (p.Val1813Ile) (rs367623969)

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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 RCV000150963 SCV000198634 uncertain significance not specified 2013-11-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val1813Ile vari ant in LOXHD1 has not been previously reported in individuals with hearing loss, but has been identified in 0.03% (1/3182) of European American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computati onal analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyP hen2, and SIFT) do not provide strong support for or against an impact to the pr otein. In summary, additional data is needed to determine the clinical signific ance of this variant.

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