ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89764884)_(89779963_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707802 SCV000836912 likely pathogenic Fanconi anemia 2018-02-20 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 18-28 of the FANCA gene. It preserves the integrity of the reading frame. A similar deletion of exons 18-28 has been reported in an individual affected with Fanconi anemia (PMID: 28717661). A missense substitution at this codon (p.Gln869Pro) has been reported in individuals affected with Fanconi anemia and determined to be pathogenic (PMID: 17924555, 15643609). This suggests that the glutamine residue is critical for FANCA protein function and that other deletions encompassing this position may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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