ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.978A>G (p.Glu326=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003829581 SCV004628325 uncertain significance Fanconi anemia 2023-01-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with FANCG-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects codon 326 of the FANCG mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCG protein.

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