ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.605C>T (p.Ala202Val)

gnomAD frequency: 0.00007  dbSNP: rs771803942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001107846 SCV001265031 benign Exostoses, multiple, type 2 2017-04-28 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.
Invitae RCV001107846 SCV001534145 uncertain significance Exostoses, multiple, type 2 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 202 of the EXT2 protein (p.Ala202Val). This variant is present in population databases (rs771803942, gnomAD 0.1%). This missense change has been observed in individual(s) with multiple osteochondromatosis (PMID: 11170095, 26961984). ClinVar contains an entry for this variant (Variation ID: 879931). 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 not 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.
GeneDx RCV003442205 SCV004167751 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in patients with multiple exostoses/osteochondromas (Seki et al., 2001; Ishimaru et al., 2016); This variant is associated with the following publications: (PMID: 11170095, 26961984, 32636136)

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