ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.428G>A (p.Arg143Gln)

gnomAD frequency: 0.00001  dbSNP: rs751060486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996470 SCV002287019 uncertain significance Cranium bifidum occultum 2022-11-22 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 expected to disrupt MSX2 protein function. ClinVar contains an entry for this variant (Variation ID: 1498203). This missense change has been observed in at least one individual who was not affected with MSX2-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with MSX2-related conditions. This variant is present in population databases (rs751060486, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 143 of the MSX2 protein (p.Arg143Gln).

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