ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)

dbSNP: rs1210148997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876264 SCV002129355 uncertain significance Fanconi anemia 2023-09-01 criteria provided, single submitter clinical testing 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. 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 expected to disrupt FANCI protein function. ClinVar contains an entry for this variant (Variation ID: 929721). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 289 of the FANCI protein (p.Leu289Pro).
Leiden Open Variation Database RCV001194991 SCV001364867 pathogenic Fanconi anemia complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
GenomeConnect - Invitae Patient Insights Network RCV001194991 SCV001749470 not provided Fanconi anemia complementation group I no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-18-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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