ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.464G>A (p.Arg155His)

gnomAD frequency: 0.00004  dbSNP: rs201099560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538510 SCV000626334 uncertain significance Fanconi anemia 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 155 of the FANCG protein (p.Arg155His). This variant is present in population databases (rs201099560, gnomAD 0.05%). This missense change has been observed in individual(s) with stomach cancer (PMID: 26689913). ClinVar contains an entry for this variant (Variation ID: 456236). 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 histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001273818 SCV002526050 uncertain significance Fanconi anemia complementation group G 2022-05-04 criteria provided, single submitter clinical testing The FANCG c.464G>A (p.Arg155His) missense change has a maximum subpopulation frequency of 0.050% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). It is predicted to have a benign effect on protein function (BP4), but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4.
Fulgent Genetics, Fulgent Genetics RCV001273818 SCV002816698 uncertain significance Fanconi anemia complementation group G 2021-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273818 SCV001457372 uncertain significance Fanconi anemia complementation group G 2020-09-16 no assertion criteria provided clinical testing

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