ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.442C>T (p.Pro148Ser)

dbSNP: rs1581520079
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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 RCV000792855 SCV000932179 uncertain significance Cranium bifidum occultum 2021-01-06 criteria provided, single submitter clinical testing This variant has been reported in the literature in individuals affected with non-syndromic craniosynostosis (PMID: 28808027). 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. This variant disrupts the p.Pro148 amino acid residue in MSX2. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 23918290, 23949913, 27884935), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 148 of the MSX2 protein (p.Pro148Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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