ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs)

dbSNP: rs771578684
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996905 SCV002219110 uncertain significance Fanconi anemia 2021-10-31 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FANCI gene (p.Lys1328Glyfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the FANCI protein and extend the protein by 3 additional amino acid residues. This variant is present in population databases (rs771578684, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. 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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