ClinVar Miner

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

dbSNP: rs1411317487
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Total submissions: 3
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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].
Labcorp Genetics (formerly Invitae), Labcorp RCV001368476 SCV001564871 uncertain significance Fanconi anemia 2024-01-16 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 present in population databases (no rsID available, gnomAD 0.007%). This protein extension has been observed in individual(s) with head and neck squamous cell carcinoma (PMID: 28678401). ClinVar contains an entry for this variant (Variation ID: 997490). 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.
GeneDx RCV002274181 SCV002559439 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing Normal stop codon changed to a lysine codon, leading to the addition of 6 amino acids at the C-terminus; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with head and neck squamous cell carcinoma (Chandrasekharappa 2017); This variant is associated with the following publications: (PMID: 28678401)

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