ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.119C>G (p.Ala40Gly)

gnomAD frequency: 0.00001  dbSNP: rs750184645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571997 SCV001796567 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001866036 SCV002202734 uncertain significance Fanconi anemia 2023-03-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 40 of the FANCM protein (p.Ala40Gly). This variant is present in population databases (rs750184645, gnomAD 0.003%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1205354). This variant has not been reported in the literature in individuals affected with FANCM-related conditions.

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