ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.448del (p.Leu150fs)

dbSNP: rs746776892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672195 SCV000797275 likely pathogenic Primary hyperoxaluria type 3 2018-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855575 SCV002234268 pathogenic not provided 2024-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu150Serfs*46) in the HOGA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HOGA1 are known to be pathogenic (PMID: 22391140, 22781098). This variant is present in population databases (rs746776892, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HOGA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 556221). For these reasons, this variant has been classified as Pathogenic.

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