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 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 tolerated. This variant has not been reported in the literature in individuals affected with MSX2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). 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).
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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