ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)

gnomAD frequency: 0.00053  dbSNP: rs1800346
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458962 SCV000558887 likely benign Fanconi anemia 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001764459 SCV001991003 uncertain significance not provided 2019-05-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genetic Services Laboratory, University of Chicago RCV001821345 SCV002069408 likely benign not specified 2021-04-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000458962 SCV002534991 uncertain significance Fanconi anemia 2021-11-15 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001276506 SCV004017588 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001764459 SCV004218550 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00052 (13/24958 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on FANCA mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant.
PreventionGenetics, part of Exact Sciences RCV003970325 SCV004782733 likely benign FANCA-related disorder 2023-06-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001276506 SCV001462885 likely benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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