ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.782C>G (p.Ala261Gly)

gnomAD frequency: 0.00001  dbSNP: rs1459531026
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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 RCV001914874 SCV002144779 uncertain significance Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2022-12-06 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MSX1 protein function. ClinVar contains an entry for this variant (Variation ID: 1379518). This variant has not been reported in the literature in individuals affected with MSX1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 261 of the MSX1 protein (p.Ala261Gly).
Breakthrough Genomics, Breakthrough Genomics RCV004693854 SCV005190006 uncertain significance not provided criteria provided, single submitter not provided

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