ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.694_695del (p.Leu232fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461503 SCV004199183 likely pathogenic Fanconi anemia complementation group G 2021-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003636029 SCV004538697 pathogenic Fanconi anemia 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu232Serfs*2) 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 variant has not been reported in the literature in individuals affected with FANCG-related conditions. For these reasons, this variant has been classified as Pathogenic.

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