ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1157C>G (p.Pro386Arg) (rs141147618)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000121034 SCV000085202 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000630846 SCV000751815 uncertain significance Fanconi anemia 2018-02-15 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 386 of the FANCG protein (p.Pro386Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs141147618, ExAC 0.07%). This variant has not been reported in the literature in individuals with FANCG-related disease. ClinVar contains an entry for this variant (Variation ID: 134360). 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 arginine 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, 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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