ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln) (rs1554670417)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528579 SCV000626336 uncertain significance Fanconi anemia 2017-01-24 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 5 of the FANCG mRNA (c.520_523delinsC). This leads to the deletion of 2 amino acid residues and the insertion of 1 amino acid residue in the FANCG protein (p.Ser174_Lys175delinsGln) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCG-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a novel complex sequence change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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