ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.726C>A (p.Phe242Leu)

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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 RCV003760537 SCV004549141 uncertain significance Cranium bifidum occultum 2023-09-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs371825159, gnomAD 0.007%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 242 of the MSX2 protein (p.Phe242Leu). This variant has not been reported in the literature in individuals affected with MSX2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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