ClinVar Miner

Submissions for variant NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) (rs759217526)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192919 SCV000247355 uncertain significance not specified 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV000226300 SCV000290416 benign Fanconi anemia 2020-12-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000513086 SCV000331723 pathogenic not provided 2016-02-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226300 SCV000431329 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing The c.1111_1114dupATTA (p.Thr372AsnfsTer13) variant, which results in a frameshift near the C-terminus of the protein and extends the full-length protein by ten amino acids, was observed in a patient with clinical features suggestive of Fanconi anemia (Ali et al. 2009). This patient was compound heterozygous for the p.Thr372AsnfsTer13 variant, which was inherited from the patient's father, and a second inframe deletion variant that was inherited from the patient's mother. Functional testing of this variant, when ectopically expressed in FA-L patient cell line, resulted in a phenotype intermediate of EUFA868 cells expressing vector alone and EUFA868 cells expressing wild-type FANCL. The p.Thr372AsnfsTer13 variant has been reported at a frequency of 0.00783 in the population described as 'Other' in the Exome Aggregation Consortium. The evidence for this variant is limited. Based on the evidence from the literature and due to the potential impact of frameshift variants, the p.Thr372AsnfsTer13 variant is classified as a variant of uncertain significance but suspicious for pathogenicity for Fanconi anemia.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513086 SCV000608939 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000513086 SCV000748638 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 9 amino acids are replaced with 12 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Observed in the heterozygous state, sometimes using alternate nomenclature (c.1095_1098dupAATT, c.1094_1095insAATT, or c.1100_1100C>ATTAC), in multiple individuals with cancer, including breast cancer, head and neck squamous cell carcinoma, childhood-onset solid tumors, and lung adenocarcinoma (Akbari et al., 2011; Ellingson et al., 2015; Lhota et al., 2016; Parsons et al., 2016; Tedaldi et al., 2017; Chandrasekharappa et al., 2017; Ghazani et al., 2017); This variant is associated with the following publications: (PMID: 33504652, 32235514, 30306255, 26296701, 28678401, 28125075, 28423363, 26822237, 27659787, 27506598, 26822949, 21279724, 19405097, 27153395)
Mendelics RCV000986760 SCV001135876 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001195069 SCV001365354 likely pathogenic Fanconi anemia, complementation group L 2019-07-20 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Zdenek Kleibl.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000513086 SCV001800208 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000513086 SCV001806996 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000513086 SCV001953664 uncertain significance not provided no assertion criteria provided clinical testing

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