ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) (rs376523966)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000368836 SCV000399813 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000368836 SCV000626199 uncertain significance Fanconi anemia 2017-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1317 of the FANCA protein (p.Arg1317Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs376523966, ExAC 0.03%) but has not been reported in the literature in individuals with a FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 321329). 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 glutamine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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