ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1359+5G>C

gnomAD frequency: 0.00004  dbSNP: rs183569738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494125 SCV000582534 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing The c.1359+5G>C variant in the FANCA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. In silico analysis predicts the natural splice donor site may be damaged. However, in the absence of RNA/functional studies, the actual effect of the c.1359+5G>C change in this individual is unknown. The c.1359+5G>C variant is observed in 5/10466 (0.05%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). We interpret c.1359+5G>C as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001221856 SCV001393923 uncertain significance Fanconi anemia 2022-10-09 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs183569738, gnomAD 0.03%). 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: 429863). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV002481567 SCV002796387 uncertain significance Fanconi anemia complementation group A 2022-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001221856 SCV002095044 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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