ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.488G>A (p.Arg163His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241391 SCV001414405 uncertain significance Fanconi anemia 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 163 of the FANCA protein (p.Arg163His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with head and neck cancer (PMID: 28678401). 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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