ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.733T>C (p.Cys245Arg)

gnomAD frequency: 0.00004  dbSNP: rs775151292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788719 SCV000927934 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487625 SCV002791684 uncertain significance Nonimmune chronic idiopathic neutropenia of adults; Neutropenia, severe congenital, 2, autosomal dominant 2022-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535789 SCV003524686 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 245 of the GFI1 protein (p.Cys245Arg). This variant is present in population databases (rs775151292, gnomAD 0.008%). 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: 636791). 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 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.

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