ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.722C>T (p.Pro241Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003253804 SCV003966671 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.722C>T (p.P241L) alteration is located in exon 2 (coding exon 2) of the MSX2 gene. This alteration results from a C to T substitution at nucleotide position 722, causing the proline (P) at amino acid position 241 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003594640 SCV004369158 uncertain significance Cranium bifidum occultum 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 241 of the MSX2 protein (p.Pro241Leu). This variant is present in population databases (rs368570722, gnomAD 0.008%). 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: 2534198). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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