ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) (rs121434425)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706520 SCV000835575 pathogenic Fanconi anemia 2018-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu105*) in the FANCG gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121434425, ExAC 0.003%). This variant has been reported to segregate in families affected with Fanconi anemia (PMID: 11093276, 9806548). This variant has also been observed as homozygous or on the opposite chromosome (in trans) from other pathogenic variants in FANCG in individuals affected with Fanconi anemia (PMID: 9806458, 11093276). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has been reported as a common FANCG founder variant in the German population (PMID: 11093276, 12673805). ClinVar contains an entry for this variant (Variation ID: 6712). Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000007104 SCV000891263 pathogenic Fanconi anemia, complementation group G 2017-12-26 criteria provided, single submitter clinical testing
OMIM RCV000007104 SCV000027300 pathogenic Fanconi anemia, complementation group G 2000-11-01 no assertion criteria provided literature only

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