ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.538G>A (p.Gly180Arg)

dbSNP: rs529448705
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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 RCV001491068 SCV001695651 likely benign Neutropenia, severe congenital, 2, autosomal dominant 2024-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004917719 SCV005593388 uncertain significance not specified 2024-11-18 criteria provided, single submitter clinical testing The p.G180R variant (also known as c.538G>A), located in coding exon 3 of the GFI1 gene, results from a G to A substitution at nucleotide position 538. The glycine at codon 180 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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