ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.710T>C (p.Val237Ala)

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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 RCV002606691 SCV003503218 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2022-03-29 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. This variant has not been reported in the literature in individuals affected with GFI1-related conditions. 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 sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 237 of the GFI1 protein (p.Val237Ala).
Ambry Genetics RCV004634189 SCV005123903 uncertain significance not specified 2024-05-23 criteria provided, single submitter clinical testing The c.710T>C (p.V237A) alteration is located in exon 4 (coding exon 3) of the GFI1 gene. This alteration results from a T to C substitution at nucleotide position 710, causing the valine (V) at amino acid position 237 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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