ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) (rs769485443)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697107 SCV000825701 uncertain significance Fanconi anemia 2018-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 307 of the FANCI protein (p.Pro307Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs769485443, ExAC 0.1%). This variant has not been reported in the literature in individuals with FANCI-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
Fulgent Genetics,Fulgent Genetics RCV000763986 SCV000894937 uncertain significance Fanconi anemia, complementation group I 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000763986 SCV001451641 uncertain significance Fanconi anemia, complementation group I 2019-02-20 criteria provided, single submitter clinical testing The FANCI c.919C>T (p.Pro307Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000981 in the East Asian population of the Genome Aggregation Database. Based on the limited evidence, the p.Pro307Ser variant is classified as a variant of uncertain significance for Fanconi anemia.

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