ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.850C>T (p.Pro284Ser)

gnomAD frequency: 0.00001  dbSNP: rs771885867
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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 RCV002047668 SCV002288884 uncertain significance Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2020-11-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MSX1-related conditions. It is also known as P278S. This variant is present in population databases (rs771885867, ExAC 0.002%). This sequence change replaces proline with serine at codon 284 of the MSX1 protein (p.Pro284Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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