ClinVar Miner

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

dbSNP: rs757418016
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: 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 2023-12-21 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. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). This variant is present in population databases (rs781582249, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 23613520, 28717661). ClinVar contains an entry for this variant (Variation ID: 623182). For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001067732 SCV001448810 likely pathogenic Fanconi anemia 2017-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000761291 SCV002806829 pathogenic Fanconi anemia complementation group G 2022-04-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000761291 SCV004199112 pathogenic Fanconi anemia complementation group G 2023-10-30 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000761291 SCV001364833 uncertain significance Fanconi anemia complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV000761291 SCV002077450 pathogenic Fanconi anemia complementation group G 2020-09-03 no assertion criteria provided clinical testing

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