ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.461dup (p.Cys155fs)

dbSNP: rs1658216855
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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 RCV001350481 SCV001544881 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2020-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys155Leufs*58) in the GFI1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with GFI1-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GFI1 cause disease. 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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