ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3828+2dup

dbSNP: rs2062114186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003393923 SCV004112012 uncertain significance FANCA-related disorder 2023-02-16 criteria provided, single submitter clinical testing The FANCA c.3828+2dupT variant is predicted to result in an intronic duplication. This variant is predicted to interfere with splicing at a consensus splice site in FANCA based on splicing prediction programs (Alamut Visual Plus v.1.6.1). However, these predictions are not equivalent to functional evidence. This variant was reported in the compound heterozygous state in a patient with Fanconi anemia (Kimble et al. 2018. PubMed ID: 29098742). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, other variants impacting the c.3828 consensus splice site (c.3828+1G>C and c.3828+1G>T) have also been documented in patients with Fanconi anemia (Kimble et al. 2018. PubMed ID: 29098742; Castella et al. 2011. PubMed ID: 21273304). Although we suspect that the c.3828+2dupT variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Leiden Open Variation Database RCV001256525 SCV001426000 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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