ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1141C>T (p.Arg381Cys) (rs371020401)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468358 SCV000547725 uncertain significance Fanconi anemia, complementation group E 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 381 of the FANCE protein (p.Arg381Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs371020401, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with FANCE-related disease. ClinVar contains an entry for this variant (Variation ID: 134342). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
ITMI RCV000121016 SCV000085184 not provided not specified 2013-09-19 no assertion provided reference population

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