ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.39G>C (p.Gln13His)

gnomAD frequency: 0.00001  dbSNP: rs1486155993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246397 SCV001419747 likely benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978207 SCV005583292 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The p.Q13H variant (also known as c.39G>C), located in coding exon 1 of the FANCA gene, results from a G to C substitution at nucleotide position 39. The glutamine at codon 13 is replaced by histidine, an amino acid with highly 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.
Natera, Inc. RCV001246397 SCV002093160 uncertain significance Fanconi anemia 2020-07-27 no assertion criteria provided clinical testing

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