ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?)

dbSNP: rs1767835895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350942 SCV001545370 uncertain significance Fanconi anemia complementation group E 2022-02-18 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the FANCE mRNA. It is expected to extend the length of the FANCE protein by 79 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 1046389). 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.

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