ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3398del (p.His1133fs)

dbSNP: rs2038407878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002570432 SCV002937027 pathogenic Fanconi anemia 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1133Profs*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 premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 11344308). ClinVar contains an entry for this variant (Variation ID: 974051). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001256289 SCV005642626 likely pathogenic Fanconi anemia complementation group A 2024-04-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256289 SCV001425710 pathogenic 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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