ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) (rs121434505)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000009247 SCV000944801 pathogenic Fanconi anemia, complementation group E 2018-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln119*) in the FANCE gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121434505, ExAC 0.003%). This variant has been observed to be homozygous in an individual affected with Fanconi anemia (PMID: 11001585). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 8709). Loss-of-function variants in FANCE are known to be pathogenic (PMID: 11001585, 17924555). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009247 SCV000029465 pathogenic Fanconi anemia, complementation group E 2000-11-01 no assertion criteria provided literature only

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