ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)

dbSNP: rs776345911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375173 SCV001571731 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate
Fulgent Genetics, Fulgent Genetics RCV002476713 SCV002777542 likely pathogenic Autosomal recessive nonsyndromic hearing loss 77 2022-03-11 criteria provided, single submitter clinical testing
Invitae RCV003727992 SCV004539930 pathogenic not provided 2023-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn1715Thrfs*4) 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 present in population databases (rs776345911, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LOXHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064937).

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