ClinVar Miner

Submissions for variant NM_001372076.1(PAX9):c.689G>T (p.Arg230Leu)

dbSNP: rs368787836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694512 SCV000822961 uncertain significance Hypodontia 2018-05-20 criteria provided, single submitter clinical testing 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. 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 C65"). This variant has not been reported in the literature in individuals with PAX9-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 230 of the PAX9 protein (p.Arg230Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.
GeneDx RCV001555392 SCV001776804 uncertain significance not provided 2024-08-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)

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