ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)

gnomAD frequency: 0.00004  dbSNP: rs549810739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055940 SCV001220355 uncertain significance Exostoses, multiple, type 2 2022-10-03 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 851528). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs549810739, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 302 of the EXT2 protein (p.Lys302Asn).
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001055940 SCV003928034 uncertain significance Exostoses, multiple, type 2 2023-05-08 criteria provided, single submitter clinical testing The EXT2 c.1005G>C (p.Lys335Asn) missense change has a maximum subpopulation frequency of 0.016% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with hereditary multiple exostoses. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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