ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)

dbSNP: rs752864343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801557 SCV000941337 pathogenic Fanconi anemia 2023-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp386*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 647127). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003461133 SCV004196610 likely pathogenic Fanconi anemia complementation group A 2022-10-23 criteria provided, single submitter clinical testing

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