ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile)

gnomAD frequency: 0.00001  dbSNP: rs1204335568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Open Variation Database RCV001256615 SCV001426111 uncertain significance Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
PreventionGenetics, part of Exact Sciences RCV004743368 SCV005360323 uncertain significance FANCA-related disorder 2024-06-21 no assertion criteria provided clinical testing The FANCA c.3338A>T variant is predicted to result in the amino acid substitution p.Asn1113Ile. This variant has been reported previously, in the cis configuration with another variant designated FANCA c.3316G>A, in individuals with Fanconi anemia who also harbored a second FANCA variant on the opposite allele (Zhang et al. 2015. PubMed ID: 25239263. Table S2; Coleman et al. 2023. PubMed ID: 37276838).This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/974350/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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