ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3145G>A (p.Glu1049Lys) (rs727504468)

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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 RCV000155593 SCV000205301 uncertain significance not specified 2014-09-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu1049Lys vari ant in LOXHD1 has been previously reported in 1 individual with hearing loss who was homozygous for a pathogenic variant in another gene that explained their he aring loss (LMM unpublished data). This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provid e strong support for or against an impact to the protein. In summary, the clinic al significance of the Glu1049Lys variant is uncertain.

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