ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)

dbSNP: rs2143163267
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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 RCV002042193 SCV002109426 pathogenic Fanconi anemia 2022-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1350875). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 29098742). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1022*) 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).

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