ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1216del (p.Gln406fs)

dbSNP: rs758423821
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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 RCV000798901 SCV000938543 pathogenic Fanconi anemia 2021-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln406Argfs*9) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 644909). This variant is present in population databases (rs758423821, ExAC 0.002%).

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