ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1114-8G>A

gnomAD frequency: 0.00001  dbSNP: rs878854342
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000009249 SCV002253126 pathogenic Fanconi anemia complementation group E 2024-12-03 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the FANCE gene. It does not directly change the encoded amino acid sequence of the FANCE protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with Fanconi anemia (PMID: 10205272, 35295078; internal data). ClinVar contains an entry for this variant (Variation ID: 8711). Studies have shown that this variant results in activation of a cryptic splice site, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 11001585). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000009249 SCV002788163 likely pathogenic Fanconi anemia complementation group E 2024-05-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000009249 SCV004196811 likely pathogenic Fanconi anemia complementation group E 2023-03-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884334 SCV004702666 likely pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing FANCE: PM2, PM3:Supporting, PP3, PS3:Supporting, PS4:Supporting
OMIM RCV000009249 SCV000029467 pathogenic Fanconi anemia complementation group E 2000-11-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000009249 SCV001364610 uncertain significance Fanconi anemia complementation group E 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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