ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) (rs753063086)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670742 SCV000795636 likely pathogenic Fanconi anemia, complementation group A 2017-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000670742 SCV000894101 likely pathogenic Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000809264 SCV000949410 pathogenic Fanconi anemia 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1055 of the FANCA protein (p.Arg1055Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs753063086, ExAC 0.02%). This variant has been observed in individuals affected with Fanconi anemia (PMID: 9929978, 10094191, 15523645, 19367192). ClinVar contains an entry for this variant (Variation ID: 555008). This variant has been reported to affect FANCA protein function (PMID: 12444097, 24349332, 28864460). This variant disrupts the p.Arg1055 amino acid residue in FANCA. Other variant(s) that disrupt this residue have been observed in individuals with FANCA-related conditions (PMID: 24584348), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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