ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly)

gnomAD frequency: 0.00001  dbSNP: rs778544563
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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 RCV001983460 SCV002271970 likely benign Fanconi anemia 2024-02-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478916 SCV004218599 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00023 (8/34586 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Ambry Genetics RCV004976092 SCV005583249 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The p.E1344G variant (also known as c.4031A>G), located in coding exon 41 of the FANCA gene, results from an A to G substitution at nucleotide position 4031. The glutamic acid at codon 1344 is replaced by glycine, an amino acid with similar 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.
Fulgent Genetics, Fulgent Genetics RCV005008368 SCV005642562 uncertain significance Fanconi anemia complementation group A 2024-02-16 criteria provided, single submitter clinical testing

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