ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) (rs368711186)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293995 SCV001482738 uncertain significance Fanconi anemia, complementation group I 2020-06-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001319341 SCV001510083 uncertain significance Fanconi anemia 2020-02-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 284 of the FANCI protein (p.Glu284Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs368711186, ExAC 0.03%). This variant has not been reported in the literature in individuals 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: Tolerated; 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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