ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.981dup (p.Leu328fs)

dbSNP: rs2131055463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908901 SCV002173684 pathogenic Fanconi anemia 2022-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu328Thrfs*6) 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).
Baylor Genetics RCV004571580 SCV005057688 likely pathogenic Fanconi anemia complementation group G 2023-12-17 criteria provided, single submitter clinical testing

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