ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)

dbSNP: rs1384748892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002226565 SCV002505524 pathogenic Fanconi anemia complementation group G 2022-04-20 criteria provided, single submitter clinical testing This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PS4_SUP, PM2_SUP
Fulgent Genetics, Fulgent Genetics RCV002226565 SCV002787715 likely pathogenic Fanconi anemia complementation group G 2021-09-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV002226565 SCV004199184 likely pathogenic Fanconi anemia complementation group G 2021-11-17 criteria provided, single submitter clinical testing
Invitae RCV003523119 SCV004265348 pathogenic Fanconi anemia 2023-09-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1679122). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg39*) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564).

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