ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) (rs148473140)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671453 SCV000796429 likely pathogenic Fanconi anemia, complementation group A 2017-12-14 criteria provided, single submitter clinical testing
Invitae RCV000805493 SCV000945450 pathogenic Fanconi anemia 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 435 of the FANCA protein (p.Arg435Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs148473140, ExAC 0.01%). This variant has been observed in individuals affected with Fanconi anemia (PMID: 28102861, 15523645, 10090479). ClinVar contains an entry for this variant (Variation ID: 555603). This variant has been reported to affect FANCA protein function (PMID: 11739169, 12444097). This variant disrupts the p.Arg435 amino acid residue in FANCA. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 19367192, Invitae), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000671453 SCV001425656 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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