ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1745A>G (p.His582Arg)

dbSNP: rs1196002404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209209 SCV001380633 uncertain significance Fanconi anemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 582 of the FANCG protein (p.His582Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001833838 SCV002085267 uncertain significance Fanconi anemia complementation group G 2021-06-04 no assertion criteria provided clinical testing

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