ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser)

gnomAD frequency: 0.00001  dbSNP: rs778696295
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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 RCV001243384 SCV001416540 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 11 of the HOGA1 protein (p.Arg11Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs778696295, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with HOGA1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV001829028 SCV002791042 uncertain significance Primary hyperoxaluria type 3 2022-03-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829028 SCV002091543 uncertain significance Primary hyperoxaluria type 3 2020-03-18 no assertion criteria provided clinical testing

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