ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)

gnomAD frequency: 0.00003  dbSNP: rs748263867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068715 SCV001233842 uncertain significance Fanconi anemia 2022-09-06 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 115 of the FANCA protein (p.Gly115Glu). This variant is present in population databases (rs748263867, gnomAD 0.009%). This missense change has been observed in individual(s) with pancreatic cancer (PMID: 28767289). ClinVar contains an entry for this variant (Variation ID: 862067). 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 not 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.
Fulgent Genetics, Fulgent Genetics RCV002482122 SCV002790828 uncertain significance Fanconi anemia complementation group A 2022-03-01 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002482122 SCV005402123 uncertain significance Fanconi anemia complementation group A 2024-04-13 criteria provided, single submitter clinical testing The FANCA c.344G>A (p.Gly115Glu) missense change has a maximum subpopulation frequency of 0.0078% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but this prediction has not been confirmed by functional studies. The variant has been reported in one individual with pancreatic cancer (PMID: 28767289). This variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Natera, Inc. RCV001068715 SCV002090776 uncertain significance Fanconi anemia 2020-03-04 no assertion criteria provided clinical testing

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