ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.698C>T (p.Ala233Val)

gnomAD frequency: 0.00001  dbSNP: rs138053303
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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 RCV000644909 SCV000766627 uncertain significance Cranium bifidum occultum 2021-12-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 536455). This variant has not been reported in the literature in individuals affected with MSX2-related conditions. This variant is present in population databases (rs138053303, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 233 of the MSX2 protein (p.Ala233Val).

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