ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) (rs121434426)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791560 SCV000930816 pathogenic Fanconi anemia 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln356*) in the FANCG gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed several individuals and families affected with FANCG-related conditions (PMID: 12673805, 25703136). ClinVar contains an entry for this variant (Variation ID: 6715). Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007107 SCV000027303 pathogenic Fanconi anemia, complementation group G 2000-01-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000007107 SCV001364826 pathogenic Fanconi anemia, complementation group G 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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