ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.692A>T (p.Asp231Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002280457 SCV002568578 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23439489)
Invitae RCV003497949 SCV004295092 uncertain significance Multiple congenital exostosis 2023-02-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 231 of the EXT1 protein (p.Asp231Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with multiple osteochondromas (PMID: 23439489). ClinVar contains an entry for this variant (Variation ID: 1703335). 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. 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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