ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.156dup (p.Leu53fs) (rs863224506)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198686 SCV000253886 pathogenic Fanconi anemia 2018-12-03 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 2 of the FANCG mRNA (c.156dupG), causing a frameshift at codon 53. This creates a premature translational stop signal (p.Leu53Alafs*4) and is expected to result in an absent or disrupted protein product. Truncating variants in FANCG are known to be pathogenic (PMID: 12552564). This particular variant has been reported in two unrelated individuals affected with Fanconi anemia. Both individuals were compound heterozygotes for this variant and another pathogenic variant in FANCG (PMID: 12552564). For these reasons, this variant has been classified as Pathogenic.

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