ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.47G>A (p.Gly16Glu)

gnomAD frequency: 0.00001  dbSNP: rs908258968
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242343 SCV001415424 uncertain significance Fanconi anemia 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 16 of the FANCA protein (p.Gly16Glu). 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 variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 967432). 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 expected to disrupt FANCA protein function. 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.
Sema4, Sema4 RCV001242343 SCV002535058 uncertain significance Fanconi anemia 2021-11-22 criteria provided, single submitter curation
Ambry Genetics RCV002564025 SCV003752353 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.47G>A (p.G16E) alteration is located in exon 1 (coding exon 1) of the FANCA gene. This alteration results from a G to A substitution at nucleotide position 47, causing the glycine (G) at amino acid position 16 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001242343 SCV002093157 uncertain significance Fanconi anemia 2019-11-11 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.