ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) (rs144908351)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000766508 SCV000285883 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228956 SCV000394198 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000766508 SCV000574041 uncertain significance not provided 2017-03-15 criteria provided, single submitter clinical testing The M525V variant in the FANCI gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M525V variant is observed in 229/66728 (0.34%) alleles from individuals of non-Finnish European background, including 1 homozygous individual in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M525V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret M525V as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000482252 SCV000594715 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing

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