ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del)

dbSNP: rs2150885287
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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 RCV001908176 SCV002153786 uncertain significance Fanconi anemia complementation group E 2021-05-26 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. This variant disrupts the initiator methionine in FANCE. If translation initiates from the next in-frame methionine, the FANCE protein would no longer include the region containing the p.Pro91 amino acid residue. Other variant(s) that disrupt this residue have been observed in individuals with FANCE-related conditions (PMID: 32487094), which suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with FANCE-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change affects the initiator methionine of the FANCE mRNA. The next in-frame methionine is located at codon 99.

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