ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.336del (p.Arg113fs)

dbSNP: rs2131058595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867354 SCV002133320 pathogenic Fanconi anemia 2024-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg113Glyfs*39) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with FANCG-related conditions (PMID: 24584348). ClinVar contains an entry for this variant (Variation ID: 1368148). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464187 SCV004199127 pathogenic Fanconi anemia complementation group G 2023-09-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001867354 SCV004240840 pathogenic Fanconi anemia 2023-12-11 criteria provided, single submitter clinical testing Variant summary: FANCG c.336delC (p.Arg113GlyfsX39) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250294 control chromosomes. c.336delC has been reported in the literature in at least one individual affected with Fanconi Anemia (De Rocco_2014). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 24584348). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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