ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)

gnomAD frequency: 0.00001  dbSNP: rs560692029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035958 SCV001199298 uncertain significance Fanconi anemia 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 781 of the FANCI protein (p.Leu781Ile). This variant is present in population databases (rs560692029, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 835139). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCI protein function. 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.
Ambry Genetics RCV002551344 SCV003537135 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.2341C>A (p.L781I) alteration is located in exon 23 (coding exon 22) of the FANCI gene. This alteration results from a C to A substitution at nucleotide position 2341, causing the leucine (L) at amino acid position 781 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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