ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) (rs758304537)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186476 SCV000790723 pathogenic Primary hyperoxaluria, type III 2017-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000186476 SCV000893856 pathogenic Primary hyperoxaluria, type III 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000186476 SCV000914473 uncertain significance Primary hyperoxaluria, type III 2018-12-04 criteria provided, single submitter clinical testing The HOGA1 c.208C>T (p.Arg70Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Arg70Ter variant has been reported in one study in which it is found in a compound heterozygous state with another null variant on the second allele in two individuals with primary hyperoxaluria type III (Williams et al. 2012). Control data are unavailable for this variant, which is reported at a frequency of 0.000098 in the South Asian population from the Genome Aggregation Database. Based on the evidence and potential impact of stop-gained variants, the p.Arg70Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for primary hyperoxaluria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000795411 SCV000934874 pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg70*) in the HOGA1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs758304537, ExAC 0.01%). This variant has been observed in several individuals affected with primary hyperoxaluria type 3 (PMID: 22391140, 27742850, 25629080). ClinVar contains an entry for this variant (Variation ID: 204269). 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 RCV000186476 SCV000239835 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided research

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