ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr)

gnomAD frequency: 0.00015  dbSNP: rs376197752
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501870 SCV000594744 uncertain significance not specified 2016-01-21 criteria provided, single submitter clinical testing
Invitae RCV000539739 SCV000626380 uncertain significance Fanconi anemia 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1762 of the FANCM protein (p.Pro1762Thr). This variant is present in population databases (rs376197752, gnomAD 0.05%). 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: 435172). 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 RCV001731725 SCV001982611 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing 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
Sema4, Sema4 RCV002257772 SCV002529877 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001731725 SCV002774575 uncertain significance not provided 2021-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490832 SCV002784750 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-05-11 criteria provided, single submitter clinical testing

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