ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) (rs747851434)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003613 SCV000486649 pathogenic Fanconi anemia, complementation group A 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000630905 SCV000751878 pathogenic Fanconi anemia 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1187Glufs*28) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747851434, ExAC 0.003%). This variant (also known as 3559insG) has been reported in the homozygous, heterozygous, and compound heterozygous state in individuals affected with Fanconi anemia (PMID: 9399890, 24584348, 17924555). This variant has been observed on the opposite chromosome (in trans) from a second pathogenic variant affected with Fanconi anemia (PMID: 24584348). 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: 3444). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003613 SCV000023771 pathogenic Fanconi anemia, complementation group A 1999-08-01 no assertion criteria provided literature only

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