ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1007-3C>T

gnomAD frequency: 0.00002  dbSNP: rs557382436
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238987 SCV001411829 uncertain significance Fanconi anemia 2022-10-25 criteria provided, single submitter clinical testing This sequence change falls in intron 11 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 (rs557382436, gnomAD 0.009%). 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: 964713). 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 RCV002491781 SCV002799521 uncertain significance Fanconi anemia complementation group A 2021-07-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478748 SCV004221901 uncertain significance not provided 2023-07-04 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, 0.000087 (3/34570 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. RCV001238987 SCV002095076 uncertain significance Fanconi anemia 2020-01-24 no assertion criteria provided clinical testing

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