ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.919-8A>G

gnomAD frequency: 0.00002  dbSNP: rs781119621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795237 SCV000934684 uncertain significance Fanconi anemia 2022-05-23 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the FANCM gene. It does not directly change the encoded amino acid sequence of the FANCM protein. This variant is present in population databases (rs781119621, gnomAD 0.03%). 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: 641891). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
GeneDx RCV002464323 SCV002759116 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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