ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3148G>T (p.Glu1050Ter) (rs1555679863)

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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 RCV000609249 SCV000712489 pathogenic Rare genetic deafness 2016-10-25 criteria provided, single submitter clinical testing The p.Glu1050X variant in LOXHD1 has not been previously reported in individuals with hearing loss or in large population studies. This nonsense variant leads t o a premature termination codon at position 1050, which is predicted to lead to a truncated or absent protein. Loss of function of the LOXHD1 gene is an establi shed disease mechanism in autosomal recessive hearing loss. In summary, this var iant meets criteria to be classified as pathogenic for autosomal recessive heari ng loss based on the predicted impact to the protein.

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