ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.713dup (p.Leu239fs)

dbSNP: rs2131056549
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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 RCV001949546 SCV002245957 pathogenic Fanconi anemia 2023-08-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1458594). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu239Profs*20) 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 RCV003464320 SCV004199166 likely pathogenic Fanconi anemia complementation group G 2023-02-01 criteria provided, single submitter clinical testing

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