ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) (rs1411317487)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292667 SCV001481271 uncertain significance Fanconi anemia, complementation group I 2019-02-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001368476 SCV001564871 uncertain significance Fanconi anemia 2020-06-22 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the FANCI mRNA. It is expected to extend the length of the FANCI protein by 6 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with head and neck squamous cell carcinoma (PMID: 28678401). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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