ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)

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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 RCV003074778 SCV003459115 uncertain significance Exostoses, multiple, type 2 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 223 of the EXT2 protein (p.Arg223Gln). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with EXT2-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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg223 amino acid residue in EXT2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12490068, 17589361, 18165274, 23262345). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 RCV005045236 SCV005683544 uncertain significance Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 2024-01-10 criteria provided, single submitter clinical testing

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