ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro)

dbSNP: rs1221444661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068879 SCV001234012 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 47 of the HOGA1 protein (p.Thr47Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HOGA1-related conditions. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt HOGA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV001068879 SCV003808748 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827454 SCV002094515 uncertain significance Primary hyperoxaluria type 3 2021-06-17 no assertion criteria provided clinical testing

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