ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) (rs139235751)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255908 SCV000321624 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing The C625S variant in the FANCA gene has been previously reported in an individual with Fanconi anemia who also harbored a multi-exon FANCA deletion; however, the phase of these two variants was not confirmed, as parental testing was not performed (Castella et al., 2011). Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports C625S was observed in 27/8600 (0.31%) alleles from individuals of European background, indicating it may be a rare variant in this population. The C625S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C625S as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000255908 SCV000343524 likely benign not specified 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000475267 SCV000558869 benign Fanconi anemia 2018-01-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000255908 SCV000594639 uncertain significance not specified 2016-11-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000255908 SCV000603559 uncertain significance not specified 2017-04-12 criteria provided, single submitter clinical testing

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