ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1158dup (p.Ser387fs) (rs757418016)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000761291 SCV000891264 pathogenic Fanconi anemia, complementation group G 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001067732 SCV001232804 pathogenic Fanconi anemia 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser387Leufs*9) in the FANCG gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with Fanconi anemia (PMID: 23613520, 28717661). In one of these individuals the variant was in trans (on the opposite chromosome) of another FANCG pathogenic variant. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). For these reasons, this variant has been classified as Pathogenic.

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