ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1226-4C>G

gnomAD frequency: 0.00006  dbSNP: rs934483477
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225926 SCV001398220 uncertain significance Fanconi anemia 2022-08-16 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 953609). 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 RCV002504293 SCV002815670 uncertain significance Fanconi anemia complementation group A 2022-01-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478741 SCV004221908 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0002 (5/24938 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant may affect proper FANCA mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV001225926 SCV002095058 uncertain significance Fanconi anemia 2020-09-23 no assertion criteria provided clinical testing

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