ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2492_2494TCT[1] (p.Phe832del) (rs1310756192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671281 SCV000796241 uncertain significance Fanconi anemia, complementation group A 2017-12-07 criteria provided, single submitter clinical testing
Invitae RCV001217109 SCV001388939 uncertain significance Fanconi anemia 2019-06-05 criteria provided, single submitter clinical testing This variant, c.2495_2497del, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Phe832del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in homozygosis in an individual affected with Fanconi anemia (PMID: 10094191). ClinVar contains an entry for this variant (Variation ID: 555457). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the effect of this variant on mRNA splicing is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Open Variation Database RCV000671281 SCV001425686 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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