ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) (rs201803986)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000186472 SCV000366314 likely pathogenic Primary hyperoxaluria, type III 2017-04-27 criteria provided, single submitter clinical testing The HOGA1 c.107C>T (p.Ala36Val) missense variant has been reported in three studies in which it is found in at least three patients with primary hyperoxaluria type III (PH3) in a compound heterozygous state and in a heterozygous state in one additional patient who also carried a heterozygous deletion in the AGXT gene, which is associated with PH1 (Williams et al. 2012; Pitt et al. 2014; Williams et al. 2015). Control data are unavailable for this variant, which is reported at a frequency of 0.00024 in the European (non-Finnish) population of the Exome Aggregation Consortium. Analysis of levels of the metabolic precursor of the HOGA1 substrate revealed that PH3 patients had significantly higher levels compared to age-matched controls, and that parental carriers showed moderate but significant increases in levels (Pitt et al. 2014). Based on the evidence, the p.Ala36Val variant is classified as likely pathogenic for primary hyperoxaluria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186472 SCV000239830 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided in vitro Predicted benign but found in trans with c.700+5G>T and c.944_946del. Also found by Pitt et al., 2014 (PMID:24563386).

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