ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4083A>G (p.Pro1361=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999022 SCV005626301 uncertain significance not provided 2024-07-04 criteria provided, single submitter clinical testing The FANCM c.4083A>G (p.Pro1361=) synonymous variant has not been reported in individuals with FANCM-related conditions in the published literature. The frequency of this variant in the general population, 0.000004 (1/247354 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect FANCM mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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