ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.470-9G>A

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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 RCV003518746 SCV004292288 uncertain significance Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the MSX1 gene. It does not directly change the encoded amino acid sequence of the MSX1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with tooth agenesis (PMID: 26030286). It has also been observed to segregate with disease in related individuals. This variant is also known as c.452-9G>A. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects MSX1 function (PMID: 26030286). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 26030286). 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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