ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.683dup (p.Arg229fs)

dbSNP: rs1737950636
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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 RCV001898322 SCV002160749 pathogenic Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2021-02-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the MSX1 protein. Other variant(s) that result in a similarly extended protein product (p.Phe251Thrfs*92) have been determined to be pathogenic (PMID: 25874811). This suggests that these extensions are likely to be causative of disease. This variant has not been reported in the literature in individuals with MSX1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the MSX1 gene (p.Arg229Glufs*111). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the MSX1 protein and extend the protein by 35 additional amino acid residues.

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