ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.4045G>T (p.Glu1349Ter)

dbSNP: rs2144321916
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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, Mass General Brigham Personalized Medicine RCV001449809 SCV001653102 likely pathogenic Rare genetic deafness 2020-08-13 criteria provided, single submitter clinical testing The p.Glu1349X variant in LOXHD1 has not been previously reported in individuals with hearing loss and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1349, which is predicted to lead to a truncated or absent protein. Loss of function of the LOXHD1 gene is an established disease mechanism in autosomal recessive sensorineural hearing loss.In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive sensorineural hearing loss. ACMG/AMP Criteria applied: PVS1, PM2.

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