ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2604_2609del

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Memorial Sloan Kettering Cancer Center RCV001256500 SCV001478119 likely pathogenic Fanconi anemia complementation group A 2020-12-15 criteria provided, single submitter research
Invitae RCV001879793 SCV002218142 pathogenic Fanconi anemia 2023-09-21 criteria provided, single submitter clinical testing This variant, c.2604_2609del, results in the deletion of 2 amino acid(s) of the FANCA protein (p.Gln869_Phe870del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745864224, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 15643609, 17924555). ClinVar contains an entry for this variant (Variation ID: 974247). This variant disrupts a region of the FANCA protein in which other variant(s) (p.Gln869Pro) have been determined to be pathogenic (PMID: 15643609, 17924555, 29098742; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001256500 SCV004196603 likely pathogenic Fanconi anemia complementation group A 2022-11-29 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256500 SCV001425965 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter.

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