ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2853-15_2856del (rs1285346388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664679 SCV000788680 likely pathogenic Fanconi anemia, complementation group A 2017-10-05 criteria provided, single submitter clinical testing
Invitae RCV001384022 SCV001583384 pathogenic Fanconi anemia 2020-07-03 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 30 (c.2853-15_2856del) of the FANCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Fanconi anemia (PMID: 17924555, 9371798). This variant is also known as c.2853-19del19 or IVS29(-19)-1del. ClinVar contains an entry for this variant (Variation ID: 550055). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant disrupts the p.Arg951 amino acid residue in FANCA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24584348, 24349332, 17924555, 26799702). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 RCV000664679 SCV001425701 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter.

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