ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.542_556del (p.Leu181_Ser185del)

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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 RCV002654862 SCV003522105 uncertain significance Fanconi anemia 2022-07-20 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 not present in population databases (gnomAD no frequency). This variant, c.542_556del, results in the deletion of 5 amino acid(s) of the FANCG protein (p.Leu181_Ser185del), but otherwise preserves the integrity of the reading frame.

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