ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.484C>T (p.Arg162Cys)

gnomAD frequency: 0.00003  dbSNP: rs555293970
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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 RCV001895407 SCV002156125 uncertain significance Cranium bifidum occultum 2022-09-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1381522). 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 (rs555293970, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 162 of the MSX2 protein (p.Arg162Cys).

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