ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.517A>G (p.Asn173Asp)

dbSNP: rs1448140995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237532 SCV002010205 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV003603107 SCV004532080 uncertain significance Multiple congenital exostosis 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 173 of the EXT1 protein (p.Asn173Asp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with EXT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1319533). 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 EXT1 protein function with a positive predictive value of 80%. 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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