ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.395dup (p.Pro133fs)

dbSNP: rs2131058481
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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 RCV001380474 SCV001578556 pathogenic Fanconi anemia 2020-03-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro133Alafs*22) in the FANCG gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). This variant has not been reported in the literature in individuals with FANCG-related conditions. This variant is not present in population databases (ExAC no frequency).

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