ClinVar Miner

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

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Total submissions: 4
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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 pathogenic Fanconi anemia 2020-10-08 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 C5). 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, 30792206), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000670597 SCV001425870 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto.

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