ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.251A>T (p.Glu84Val)

gnomAD frequency: 0.00001  dbSNP: rs28928890
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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 RCV001851883 SCV002174377 uncertain significance Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2021-09-04 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 14883). This variant has not been reported in the literature in individuals affected with MSX1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glutamic acid with valine at codon 84 of the MSX1 protein (p.Glu84Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine.
OMIM RCV000016012 SCV000036279 pathogenic Orofacial cleft 5 2003-06-01 no assertion criteria provided literature only

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