ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.77C>T (p.Pro26Leu)

gnomAD frequency: 0.00001  dbSNP: rs745950729
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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 RCV001863829 SCV002119473 uncertain significance Cranium bifidum occultum 2021-09-15 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant 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 (rs745950729, ExAC 0.01%). This sequence change replaces proline with leucine at codon 26 of the MSX2 protein (p.Pro26Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.

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