ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)

dbSNP: rs927201841
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664816 SCV000788831 uncertain significance Fanconi anemia complementation group A 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000815813 SCV000956285 uncertain significance Fanconi anemia 2024-10-22 criteria provided, single submitter clinical testing This variant, c.3959_3961del, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Leu1320del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 550150). 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.
Genetic Services Laboratory, University of Chicago RCV001816666 SCV002065857 uncertain significance not specified 2021-08-13 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCA gene demonstrated a three base pair deletion in exon 40, c.3959_3961del. This in-frame deletion is predicted to result in the deletion of a single amino acid residue, p.Leu1320del. This sequence change has been described in the gnomAD database with a frequency of 0.0067% in the non-Finnish European subpopulation (db SNP rs927201841). This sequence change does not appear to have been previously described in individuals with FANCA-related disorders. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.
Natera, Inc. RCV000815813 SCV002092485 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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