ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)

dbSNP: rs1484087361
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666866 SCV000791229 likely pathogenic Fanconi anemia complementation group A 2017-05-15 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000666866 SCV001448868 pathogenic Fanconi anemia complementation group A 2016-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387348 SCV001587956 pathogenic Fanconi anemia 2024-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser4*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 24584348). ClinVar contains an entry for this variant (Variation ID: 551731). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000666866 SCV002022317 pathogenic Fanconi anemia complementation group A 2020-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666866 SCV002775625 likely pathogenic Fanconi anemia complementation group A 2022-05-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666866 SCV005057539 pathogenic Fanconi anemia complementation group A 2024-03-20 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000666866 SCV001425891 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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