ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2003-3T>C

gnomAD frequency: 0.00016  dbSNP: rs777799598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039366 SCV001202896 uncertain significance Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the FANCM gene. It does not directly change the encoded amino acid sequence of the FANCM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs777799598, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 837924). 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.
Baylor Genetics RCV001293941 SCV001482643 uncertain significance Spermatogenic failure 28 2020-12-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002479251 SCV002774586 uncertain significance not provided 2023-05-23 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, 0.000032 (9/279972 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 FANCM mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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