ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1868G>A (p.Arg623Lys) (rs373151735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764158 SCV000895159 uncertain significance Deafness, autosomal recessive 77 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150983 SCV000198667 uncertain significance not specified 2014-04-28 criteria provided, single submitter clinical testing The Arg623Lys variant in LOXHD1 has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (2/1384) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs373151735). Computational prediction tools and conservation analys es suggest that the Arg623Lys variant may not impact the protein, though this in formation is not predictive enough to rule out pathogenicity. In summary, the cl inical significance of the Arg623Lys variant is uncertain.

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