ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) (rs1419840309)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000625676 SCV000789436 likely pathogenic Primary hyperoxaluria, type III 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000796385 SCV000935897 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val42*) 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 not been reported in the literature in individuals with HOGA1-related disease. Loss-of-function variants in HOGA1 are known to be pathogenic (PMID: 22391140, 22781098). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625676 SCV000746179 pathogenic Primary hyperoxaluria, type III 2017-11-14 no assertion criteria provided clinical testing

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