ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del)

dbSNP: rs869312805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002307447 SCV002601454 uncertain significance not provided 2022-05-10 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27642530)
Invitae RCV002515578 SCV003459592 uncertain significance Fanconi anemia 2022-04-16 criteria provided, single submitter clinical testing This variant, c.2097_2099del, results in the deletion of 1 amino acid(s) of the FANCD2 protein (p.Leu700del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individual(s) with Fanconi anemia (PMID: 27642530). ClinVar contains an entry for this variant (Variation ID: 224709). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM RCV000210268 SCV000266238 likely pathogenic Fanconi anemia complementation group D2 2016-03-01 no assertion criteria provided clinical testing

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