ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5340+4T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003323049 SCV004028014 uncertain significance not provided 2023-02-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003636010 SCV004522242 uncertain significance Fanconi anemia 2023-08-09 criteria provided, single submitter clinical testing This sequence change falls in intron 20 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 (rs767306576, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. 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.

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