ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.334del (p.Ser112fs)

dbSNP: rs1479445348
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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 RCV001783262 SCV003494474 pathogenic Fanconi anemia complementation group E 2023-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser112Valfs*14) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1322887). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 32947577).
Baylor Genetics RCV001783262 SCV004196804 pathogenic Fanconi anemia complementation group E 2023-06-23 criteria provided, single submitter clinical testing

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