ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.709+5G>T (rs759877008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233245 SCV000283572 likely pathogenic Fanconi anemia 2016-01-29 criteria provided, single submitter clinical testing This variant affects a highly conserved nucleotide within the consensus splice site of intron 7. The majority of introns (75-85%) have a G nucleotide at this position (PMID: 9536098). This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous (PMID: 8896563) and compound heterozygous with a truncating pathogenic variant (PMID: 21273304) in individuals with Fanconi anemia. Nucleotide substitutions at +5 position of the intron are relatively common causes of aberrant splicing (PMID: 17576681). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Likely Pathogenic.
Leiden Open Variation Database RCV001256557 SCV001426037 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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