ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del)

dbSNP: rs1573532439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767962 SCV000898679 uncertain significance Fanconi anemia complementation group L 2021-03-30 criteria provided, single submitter clinical testing FANCL NM_018062.3 exon 8 p.Ile184del (c.551_553del): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 1 amino acid at position 184 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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