ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.2026G>T (p.Ala676Ser) (rs756986642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541408 SCV000626294 uncertain significance Fanconi anemia 2017-06-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 676 of the FANCI protein (p.Ala676Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs756986642, ExAC 0.01%). This variant has not been reported in the literature in individuals with a FANCI-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on FANCI function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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