ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) (rs745882980)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670597 SCV000795469 likely pathogenic Fanconi anemia, complementation group A 2017-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000670597 SCV000894099 likely pathogenic Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000801328 SCV000941102 likely pathogenic Fanconi anemia 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1400 of the FANCA protein (p.Arg1400Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs745882980, ExAC 0.009%). This variant has been observed in individuals affected with Fanconi anemia (PMID: 21273304, 24584348, 28102861, 29098742, 15643609, 28717661). ClinVar contains an entry for this variant (Variation ID: 554887). 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: "Benign"; Align-GVGD: "Class C55"). This variant disrupts the p.Arg1400 amino acid residue in FANCA. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 17924555, 29098742), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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