ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.431C>G (p.Ala144Gly)

gnomAD frequency: 0.00009  dbSNP: rs533176227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503304 SCV000594974 uncertain significance not specified 2016-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000799273 SCV000938928 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 144 of the GFI1 protein (p.Ala144Gly). 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 variant has not been reported in the literature in individuals affected with GFI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 435318). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GFI1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV000503304 SCV003711150 uncertain significance not specified 2024-11-23 criteria provided, single submitter clinical testing The p.A144G variant (also known as c.431C>G), located in coding exon 3 of the GFI1 gene, results from a C to G substitution at nucleotide position 431. The alanine at codon 144 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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