ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe)

dbSNP: rs533779983
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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 RCV001048382 SCV001212383 uncertain significance Fanconi anemia 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 1085 of the FANCI protein (p.Cys1085Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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