ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)

dbSNP: rs766605179
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270627 SCV000439608 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000987109 SCV001136307 uncertain significance Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270121 SCV001448983 uncertain significance Global developmental delay; Intellectual disability; Cleft palate 2019-01-10 criteria provided, single submitter clinical testing
Invitae RCV000270627 SCV002189627 uncertain significance Fanconi anemia 2023-11-30 criteria provided, single submitter clinical testing This variant, c.4234_4239del, results in the deletion of 2 amino acid(s) of the FANCD2 protein (p.Ser1412_Glu1413del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766605179, gnomAD 0.1%). This variant has been observed in individual(s) with breast cancer (PMID: 25927356). ClinVar contains an entry for this variant (Variation ID: 342380). 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.
Fulgent Genetics, Fulgent Genetics RCV002504148 SCV002816662 uncertain significance Fanconi anemia complementation group D2 2021-12-10 criteria provided, single submitter clinical testing

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