ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.712G>A (p.Ala238Thr)

dbSNP: rs1435910539
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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 RCV001957221 SCV002198972 uncertain significance Cranium bifidum occultum 2022-04-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 238 of the MSX2 protein (p.Ala238Thr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MSX2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226793 SCV002505762 uncertain significance Craniosynostosis 2 2021-08-01 criteria provided, single submitter clinical testing

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