ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.689del (p.Ser230fs)

dbSNP: rs2131056614
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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 RCV001390140 SCV001591775 pathogenic Fanconi anemia 2020-01-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser230Thrfs*44) in the FANCG gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FANCG-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564).

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