ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) (rs757504102)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669747 SCV000794528 likely pathogenic Fanconi anemia, complementation group A 2017-09-28 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000669747 SCV001762384 pathogenic Fanconi anemia, complementation group A 2021-06-21 criteria provided, single submitter clinical testing FANCA c.1734_1739del (rs1400163791) is rare (<0.1%) in a large population dataset (gnomAD: 2/251378 total alleles; 0.0008%; no homozygotes) and has been reported in ClinVar(Variation ID: 554168). It has not been reported in the literature to our knowledge. This multi-nucleotide deletion results in a premature stop codon in exon 19 likely leading to nonsense-mediated decay and lack of protein production. We consider FANCA c.1734_1739del to be pathogenic.

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