ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.929dup (p.Val311fs)

dbSNP: rs587778337
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811557 SCV000951827 pathogenic Fanconi anemia complementation group E 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val311Serfs*2) in the FANCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCE are known to be pathogenic (PMID: 11001585, 17924555). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with esophageal and breast cancer (PMID: 21279724, 26822949). ClinVar contains an entry for this variant (Variation ID: 655390). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000811557 SCV001752641 pathogenic Fanconi anemia complementation group E 2021-06-30 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001194806 SCV002011413 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000811557 SCV002023033 pathogenic Fanconi anemia complementation group E 2022-03-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000811557 SCV004196803 likely pathogenic Fanconi anemia complementation group E 2023-07-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194806 SCV001364603 uncertain significance not provided 2019-07-20 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Zdenek Kleibl.
CZECANCA consortium RCV001391222 SCV001593138 pathogenic Carcinoma of pancreas 2021-03-04 no assertion criteria provided case-control

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