ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter) (rs373937326)

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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 RCV000763029 SCV000893498 pathogenic Deafness, autosomal recessive 77 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150972 SCV000198649 pathogenic Rare genetic deafness 2013-11-26 criteria provided, single submitter clinical testing The Glu1367X variant in LOXHD1 has not been previously reported in individuals w ith hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 1367, which is predicted to lead to a truncated or absent protein. Homozygous loss of function of the LOXHD1 gene is a n established disease mechanism in hearing loss patients. In summary, this varia nt meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/ LMM) based upon the predicted loss of function of the gene.

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