ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)

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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 RCV003092535 SCV003478276 uncertain significance Fanconi anemia 2022-05-04 criteria provided, single submitter clinical testing This variant, c.24_25delinsGG, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the FANCA protein (p.Asn8_Ser9delinsLysAla). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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