ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) (rs746419489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069053 SCV001234197 pathogenic not provided 2020-05-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr39*) in the HOGA1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746419489, ExAC 0.001%). This variant has been observed in an individual affected with primary hyperoxaluria (PMID: 22391140). ClinVar contains an entry for this variant (Variation ID: 204268). Loss-of-function variants in HOGA1 are known to be pathogenic (PMID: 22391140, 22781098). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186475 SCV000239834 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided research

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