ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.260A>T (p.Asp87Val)

dbSNP: rs2130044605
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001931481 SCV002201467 uncertain significance Multiple congenital exostosis 2021-08-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EXT1-related conditions. This sequence change replaces aspartic acid with valine at codon 87 of the EXT1 protein (p.Asp87Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). 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 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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