ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter)

dbSNP: rs2037495535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223408 SCV001395557 pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln925*) 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. ClinVar contains an entry for this variant (Variation ID: 951479). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002491703 SCV002783804 likely pathogenic Autosomal recessive nonsyndromic hearing loss 77 2022-05-25 criteria provided, single submitter clinical testing

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