ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.683C>T (p.Ser228Leu)

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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 RCV002976630 SCV003291220 uncertain significance Cranium bifidum occultum 2022-06-17 criteria provided, single submitter clinical testing 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 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 (rs373857075, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 228 of the MSX2 protein (p.Ser228Leu). 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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