ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)

gnomAD frequency: 0.00001  dbSNP: rs755018069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063647 SCV001228504 pathogenic Fanconi anemia 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln343*) 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 present in population databases (rs755018069, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 29098742). ClinVar contains an entry for this variant (Variation ID: 857881). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001256568 SCV004196588 pathogenic Fanconi anemia complementation group A 2023-02-24 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256568 SCV001426051 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards.

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