ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) (rs745568821)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674491 SCV000799837 pathogenic Fanconi anemia, complementation group A 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000817200 SCV000957749 pathogenic Fanconi anemia 2019-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser947*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed as homozygous, or in combination with another FANCA variant in several individuals affected with Fanconi anemia (PMID: 9371798, 24584348, 29098742, 12955722). ClinVar contains an entry for this variant (Variation ID: 558253). 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 RCV000674491 SCV001425695 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Sue Richards.

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