ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) (rs767405535)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224829 SCV001397052 pathogenic not provided 2019-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln116*) in the HOGA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with primary hyperoxaluria (PMID: 22781098). ClinVar contains an entry for this variant (Variation ID: 204271). This variant has been reported to affect protein function (PMID: 22781098). 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 RCV000186478 SCV000239838 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided research

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