ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu)

gnomAD frequency: 0.00010  dbSNP: rs138201476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812378 SCV000952689 uncertain significance Fanconi anemia 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 617 of the FANCM protein (p.Gln617Glu). This variant is present in population databases (rs138201476, gnomAD 0.02%). 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: 656063). 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. 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 RCV001759571 SCV001987299 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with ovarian cancer (PMID: 28881617); This variant is associated with the following publications: (PMID: 28881617)
Sema4, Sema4 RCV002256537 SCV002527321 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001759571 SCV004218729 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing The variant has been reported in individual with breast cancer, ovarian cancer, as well as in unaffected controls (PMIDs: 28881617 (2017) and 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/FANCM)). The frequency of this variant in the general population, 0.00022 (29/128970 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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