ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)

dbSNP: rs2503228333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002508580 SCV002817740 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing In-frame insertion of 32 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003635993 SCV004520024 uncertain significance Fanconi anemia 2023-06-20 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1810024). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.4552_4553ins96, results in the insertion of 32 amino acid(s) of the FANCM protein (p.Glu1517_Leu1518ins32), but otherwise preserves the integrity of the reading frame.

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