ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.438G>A (p.Met146Ile)

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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 RCV003078414 SCV003474747 uncertain significance Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2022-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MSX1-related conditions. 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 146 of the MSX1 protein (p.Met146Ile).

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