ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5532A>G (p.Gln1844=)

gnomAD frequency: 0.00004  dbSNP: rs970724368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771437 SCV002002689 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV003635968 SCV004517394 likely benign Fanconi anemia 2023-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738375 SCV005361068 uncertain significance FANCM-related disorder 2024-05-09 no assertion criteria provided clinical testing The FANCM c.5532A>G variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD and has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from uncertain significance to likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/1314206/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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