ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)

gnomAD frequency: 0.00001  dbSNP: rs960741408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University RCV001374669 SCV001571595 likely pathogenic Autosomal recessive nonsyndromic hearing loss 77 2021-03-30 criteria provided, single submitter clinical testing
Invitae RCV001865867 SCV002214709 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1646*) 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 (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of nonsyndromic deafness (PMID: 26969326). This variant is also known as p.Arg535*. ClinVar contains an entry for this variant (Variation ID: 1064652). For these reasons, this variant has been classified as Pathogenic.

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