ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1566+6C>G

gnomAD frequency: 0.00002  dbSNP: rs886939126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369783 SCV001566232 uncertain significance Fanconi anemia 2022-08-16 criteria provided, single submitter clinical testing This sequence change falls in intron 16 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 (no rsID available, gnomAD 0.004%). 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: 1060359). 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 may create or strengthen a splice site. 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 RCV002488154 SCV002790373 uncertain significance Fanconi anemia complementation group A 2021-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001369783 SCV002095028 uncertain significance Fanconi anemia 2020-10-27 no assertion criteria provided clinical testing

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