ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) (rs587778309)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665475 SCV000789605 uncertain significance Fanconi anemia, complementation group A 2017-02-07 criteria provided, single submitter clinical testing
ITMI RCV000120916 SCV000085084 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000802124 SCV000941940 uncertain significance Fanconi anemia 2018-12-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 517 of the FANCA protein (p.Arg517Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs587778309, ExAC 0.04%). This variant has been observed in combination with another FANCA variant in an individual affected with Fanconi anemia (PMID: 16611311). ClinVar contains an entry for this variant (Variation ID: 134243). 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: "Deleterious"; 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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