ClinVar Miner

Submissions for variant NM_002449.5(MSX2):c.643A>T (p.Met215Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002928520 SCV003268166 uncertain significance Cranium bifidum occultum 2022-02-17 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 215 of the MSX2 protein (p.Met215Leu). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MSX2-related conditions. 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. 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.
Ambry Genetics RCV004067165 SCV005004067 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.643A>T (p.M215L) alteration is located in exon 2 (coding exon 2) of the MSX2 gene. This alteration results from a A to T substitution at nucleotide position 643, causing the methionine (M) at amino acid position 215 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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