ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)

gnomAD frequency: 0.00001  dbSNP: rs561190476
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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 RCV000813245 SCV000953596 uncertain significance Fanconi anemia 2022-10-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1306 of the FANCI protein (p.Asn1306Lys). This variant is present in population databases (rs561190476, gnomAD 0.002%). 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: 656750). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GenomeConnect - Invitae Patient Insights Network RCV003483738 SCV004228922 not provided Fanconi anemia complementation group I no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-25-2021 by Lab 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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