ClinVar Miner

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

dbSNP: rs747851434
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Total submissions: 8
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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 2023-12-16 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. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is present in population databases (rs747851434, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9399890, 17924555, 24584348). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3444). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV001818121 SCV002072231 pathogenic not provided 2021-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001818121 SCV002504446 pathogenic not provided 2022-04-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported in ClinVar as pathogenic (ClinVar Variant ID# 3444; ClinVar); This variant is associated with the following publications: (PMID: 10431244, 17924555, 9399890, 31589614, 33718801, 24584348)
PreventionGenetics, part of Exact Sciences RCV003398432 SCV004119271 pathogenic FANCA-related disorder 2023-09-15 criteria provided, single submitter clinical testing The FANCA c.3558dupG variant is predicted to result in a frameshift and premature protein termination (p.Arg1187Glufs*28). In the literature this variant is also referred to as c.3559insG and c.3558_3559insG. This variant has been reported in the homozygous and presumed compound heterozygous states in individuals with Fanconi anemia (Savino et al. 1997. PubMed ID: 9399890; Ameziane et al. 2008. PubMed ID: 17924555). This variant is reported in 0.0047% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-89811434-T-TC). Frameshift variants in FANCA are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV000003613 SCV004196554 pathogenic Fanconi anemia complementation group A 2024-03-18 criteria provided, single submitter clinical testing
OMIM RCV000003613 SCV000023771 pathogenic Fanconi anemia complementation group A 1999-08-01 no assertion criteria provided literature only
Natera, Inc. RCV000003613 SCV001458758 pathogenic Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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