ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg)

dbSNP: rs747356020
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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 RCV000821572 SCV000962334 uncertain significance Fanconi anemia 2022-10-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCM-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 663651). This variant is present in population databases (rs747356020, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1762 of the FANCM protein (p.Pro1762Arg).
GeneDx RCV002255169 SCV002526511 uncertain significance not provided 2022-06-15 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
Fulgent Genetics, Fulgent Genetics RCV002501138 SCV002806810 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-01-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002255169 SCV004218819 uncertain significance not provided 2022-10-03 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, 0.00032 (11/34574 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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