ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.179A>C (p.Lys60Thr)

dbSNP: rs2113491774
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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 RCV001876607 SCV002119851 uncertain significance Cranium bifidum occultum 2022-08-23 criteria provided, single submitter clinical testing 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. This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 60 of the MSX2 protein (p.Lys60Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355907). 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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