ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.552dup (p.Ser185fs)

dbSNP: rs1412207017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001946113 SCV002208594 pathogenic Fanconi anemia 2021-11-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser185Glufs*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).
3billion RCV002250786 SCV002521746 pathogenic Fanconi anemia complementation group G 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV002250786 SCV004199131 likely pathogenic Fanconi anemia complementation group G 2023-08-22 criteria provided, single submitter clinical testing

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