ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2303del (p.Gly768fs) (rs727503146)

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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 RCV000150981 SCV000198661 pathogenic Rare genetic deafness 2014-05-15 criteria provided, single submitter clinical testing The Gly768fs variant in LOXHD1 has not been previously identified in individuals with hearing loss and was absent from large population studies. This frameshift variant is predicted to alter the protein's amino acid sequence beginning at po sition 768 and lead to a premature termination codon 165 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Los s of function variants in the LOXHD1 gene have been previously reported to segre gate in affected individuals from several families with autosomal recessive nons yndromic hearing loss (Grillet 2009, Edvardson 2011). In summary, this variant m eets our criteria for pathogenicity (

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