ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.89G>C (p.Gly30Ala)

dbSNP: rs1414674827
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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 RCV000550347 SCV000634359 uncertain significance Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2017-07-06 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with MSX1-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with alanine at codon 30 of the MSX1 protein (p.Gly30Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine.

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