ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) (rs1555548512)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667754 SCV000792253 likely pathogenic Fanconi anemia, complementation group A 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV000822096 SCV000962882 pathogenic Fanconi anemia 2018-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln703*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Fanconi anaemia (PMID: 10094191). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000667754 SCV001425954 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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