ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.1189G>A (p.Gly397Ser)

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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 RCV003619877 SCV004370742 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2022-11-18 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 GFI1 protein function. This variant has not been reported in the literature in individuals affected with GFI1-related conditions. This variant is present in population databases (rs747009263, gnomAD 0.004%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 397 of the GFI1 protein (p.Gly397Ser).

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