ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3397del (p.His1133fs)

dbSNP: rs758917273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227821 SCV001400197 pathogenic Fanconi anemia 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1133Thrfs*7) 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: 955220). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001256288 SCV001425709 uncertain significance Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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