ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.832dup (p.Ala278fs)

gnomAD frequency: 0.00004  dbSNP: rs1290655946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939595 SCV002227808 pathogenic Fanconi anemia 2021-10-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.832insG. This premature translational stop signal has been observed in individual(s) with FANCG-related conditions (PMID: 24989076). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala278Glyfs*11) 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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