ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly)

gnomAD frequency: 0.00002  dbSNP: rs1475613789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552235 SCV000650824 uncertain significance Fanconi anemia complementation group E 2022-07-06 criteria provided, single submitter clinical testing This variant, c.953_958del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the FANCE protein (p.Glu318_Ser320delinsGly). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 471933). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV002282224 SCV002571280 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids and insertion of 1 incorrect amino acid 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

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