ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) (rs202047589)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791690 SCV000930950 likely pathogenic not provided 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 190 of the HOGA1 protein (p.Pro190Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs202047589, ExAC 0.06%). This variant has been observed to segregate with hyperoxaluria in a family (PMID: 22781098) and it has been observed to be homozygous or in combination with another HOGA1 variant in unrelated individuals with this condition (PMID: 21896830, 27561601). ClinVar contains an entry for this variant (Variation ID: 204273). Experimental studies have shown that this missense change abrogates HOGA1 activity and causes the protein to be unstable with a tendency to aggregate (PMID: 22771891). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186480 SCV000239840 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided research

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