ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.944A>G (p.Lys315Arg)

gnomAD frequency: 0.00001  dbSNP: rs1279719056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001002774 SCV000992419 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 criteria provided, single submitter case-control
GeneDx RCV002286792 SCV002576953 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing Identified with a second LOXHD1 variant in an individual with congenital SNHL, however the patient also harbored a de novo pathogenic variant in the PTPN11 gene (Gao et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32737134)

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