ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.560del (p.Pro187fs)

dbSNP: rs2131057213
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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 RCV001999871 SCV002234723 pathogenic Fanconi anemia 2023-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro187Glnfs*5) 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. ClinVar contains an entry for this variant (Variation ID: 1452560). For these reasons, this variant has been classified as Pathogenic.

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