ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3626+4C>T

gnomAD frequency: 0.00001  dbSNP: rs772166806
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996415 SCV001151103 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV001055620 SCV001220020 uncertain significance Fanconi anemia 2023-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 36 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 (rs772166806, gnomAD 0.01%). 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: 808164). 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.
Sema4, Sema4 RCV001055620 SCV002535018 uncertain significance Fanconi anemia 2021-08-20 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002497304 SCV002781335 uncertain significance Fanconi anemia complementation group A 2022-05-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898015 SCV004714096 likely benign FANCA-related condition 2021-07-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001055620 SCV002092515 uncertain significance Fanconi anemia 2020-12-21 no assertion criteria provided clinical testing

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