ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) (rs587778321)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665723 SCV000789888 uncertain significance Fanconi anemia, complementation group A 2017-02-24 criteria provided, single submitter clinical testing
ITMI RCV000120957 SCV000085125 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000547555 SCV000626206 uncertain significance Fanconi anemia 2017-06-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1425 of the FANCA protein (p.Arg1425Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs587778321, ExAC 0.005%). This variant has not been reported in the literature in individuals with a FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 134284). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on FANCA function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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