ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4223-4A>G

gnomAD frequency: 0.00008  dbSNP: rs191128410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428615 SCV001631316 likely benign Fanconi anemia 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001569964 SCV001794141 uncertain significance not provided 2021-05-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001569964 SCV004218796 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in individuals with FANCM-related disorders in the published literature. The frequency of this variant in the general population, 0.00016 (4/25020 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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