ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)

gnomAD frequency: 0.00006  dbSNP: rs200717151
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540275 SCV000626357 uncertain significance Fanconi anemia 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 60 of the FANCM protein (p.Ala60Glu). This variant is present in population databases (rs200717151, gnomAD 0.009%). 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: 456256). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV001090527 SCV001246131 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001090527 SCV001872826 uncertain significance not provided 2024-07-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002490947 SCV002812122 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-07-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001090527 SCV003833939 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001090527 SCV004218728 uncertain significance not provided 2023-01-02 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000085 (3/35440 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 conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
Mendelics RCV003994000 SCV004814096 likely benign Hereditary cancer-predisposing syndrome 2024-04-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.