ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.596+5C>T

gnomAD frequency: 0.00001  dbSNP: rs758345423
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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 RCV000824327 SCV000965221 uncertain significance Fanconi anemia 2022-07-19 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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 (rs758345423, gnomAD 0.05%). 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: 665939). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478523 SCV004218630 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0005 (10/19954 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the 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 does not affect FANCA mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV000824327 SCV002090748 uncertain significance Fanconi anemia 2020-03-04 no assertion criteria provided clinical testing

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