ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)

dbSNP: rs755938406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266522 SCV002547542 likely pathogenic Fanconi anemia 2022-05-18 criteria provided, single submitter clinical testing Variant summary: FANCE c.2_7delTGGCGA (p.Met1?) alters the initiation codon and is predicted to result either in absence of the protein or truncation of the encoded protein due to translation initiation at a downstream codon. The variant allele was found at a frequency of 2e-05 in 50680 control chromosomes. To our knowledge, no occurrence of c.2_7delTGGCGA in individuals affected with Fanconi Anemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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