ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)

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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 RCV003461502 SCV004199182 likely pathogenic Fanconi anemia complementation group G 2023-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003636028 SCV004508192 pathogenic Fanconi anemia 2023-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with FANCG-related conditions (PMID: 26689913). This variant is present in population databases (rs778986343, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Tyr447*) 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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