ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) (rs143671872)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765324 SCV000896584 uncertain significance Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499924 SCV000594654 uncertain significance not specified 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000474793 SCV000547743 uncertain significance Fanconi anemia 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1144 of the FANCA protein (p.Arg1144Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs143671872, ExAC 0.1%). This variant occurs with a pathogenic variant (c.1709_1715+4del) in FANCA in an individual with Fanconi anemia (PMID: 22778927). While it is uncertain if these two variants are on the same or opposite chromosomes, this observation suggests the c.3430C>T substitution may contribute to the cause of disease. In a study of 88 BRCA1/2-negative breast cancer families, each with at least three cases of breast cancer, this variant was reported in 0/88 cases and 1/300 controls.. ClinVar contains an entry for this variant (Variation ID: 408171). Algorithms developed to predict the effect of missense changes on protein structure and function 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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