ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.776A>G (p.Lys259Arg)

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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 RCV002785561 SCV003027510 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2022-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GFI1-related conditions. 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. This variant is present in population databases (rs749555021, gnomAD 0.004%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 259 of the GFI1 protein (p.Lys259Arg).
Ambry Genetics RCV004064650 SCV004875055 uncertain significance not specified 2024-03-12 criteria provided, single submitter clinical testing The c.776A>G (p.K259R) alteration is located in exon 4 (coding exon 3) of the GFI1 gene. This alteration results from a A to G substitution at nucleotide position 776, causing the lysine (K) at amino acid position 259 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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