ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)

gnomAD frequency: 0.00002  dbSNP: rs778171847
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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 RCV002027485 SCV002311802 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 129 of the HOGA1 protein (p.Gly129Arg). This variant is present in population databases (rs778171847, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with HOGA1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Fulgent Genetics, Fulgent Genetics RCV002492385 SCV002778521 uncertain significance Primary hyperoxaluria type 3 2021-08-30 criteria provided, single submitter clinical testing
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic RCV002492385 SCV004171776 likely pathogenic Primary hyperoxaluria type 3 2023-10-27 criteria provided, single submitter clinical testing ACMG: PM2 PM3 PP3 PP4

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