ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.925-40CT[13]

dbSNP: rs35896485
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323002 SCV000359113 uncertain significance Severe congenital neutropenia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000556449 SCV000648520 benign Neutropenia, severe congenital, 2, autosomal dominant 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001527053 SCV001737888 benign not specified 2021-06-09 criteria provided, single submitter clinical testing Variant summary: GFI1 c.925-14_925-5del10 alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.015 in 137034 control chromosomes in the gnomAD database v3.1 genomes dataset, including 14 homozygotes, strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.925-14_925-5del10 in individuals affected with Severe Congenital Neutropenia 2, Autosomal Dominant and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign, while the other laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001527053 SCV002035052 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795916 SCV002036836 likely benign not provided no assertion criteria provided clinical testing

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