ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup)

dbSNP: rs2143731691
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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 RCV001922681 SCV002176448 uncertain significance Fanconi anemia 2021-11-06 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.8_28dup, results in the insertion of 7 amino acid(s) of the FANCA protein (p.Asp3_Ser9dup), but otherwise preserves the integrity of the reading frame.

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