ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.4595_4605del (p.Asp1532fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005053124 SCV005686753 pathogenic Autosomal recessive nonsyndromic hearing loss 77 2025-01-09 criteria provided, single submitter research PVS1;PM3_Supporting;PM2_Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV005105391 SCV005742354 pathogenic not provided 2024-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1532Valfs*15) in the LOXHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LOXHD1 are known to be pathogenic (PMID: 19732867, 21465660, 25792669). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LOXHD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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