ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.68C>A (p.Pro23Gln)

gnomAD frequency: 0.00003  dbSNP: rs377031191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752665 SCV001997582 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with ovarian or colorectal cancer (Broderick et al., 2017; Dicks et al., 2017); This variant is associated with the following publications: (PMID: 27713038, 28881617)
Labcorp Genetics (formerly Invitae), Labcorp RCV001868524 SCV002202760 uncertain significance Fanconi anemia 2023-06-16 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1311682). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs377031191, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 23 of the FANCM protein (p.Pro23Gln).

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