ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)

dbSNP: rs753542290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001107291 SCV001264432 benign Exostoses, multiple, type 2 2017-08-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001107291 SCV002126686 uncertain significance Exostoses, multiple, type 2 2023-02-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 417 of the EXT2 protein (p.Arg417Gln). This variant is present in population databases (rs753542290, gnomAD 0.02%). ClinVar contains an entry for this variant (Variation ID: 879622). 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 EXT2 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.

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