ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.793-3C>G (rs749688050)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670676 SCV000795562 uncertain significance Fanconi anemia, complementation group A 2017-11-09 criteria provided, single submitter clinical testing
Invitae RCV001204945 SCV001376177 uncertain significance Fanconi anemia 2019-08-08 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs749688050, ExAC 0.006%). This variant has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 25239263, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554952). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. 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 RCV000670676 SCV001425768 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.

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