ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001204945 SCV001376177 pathogenic Fanconi anemia 2022-08-16 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. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs749688050, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 554952). 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 being in trans (on the opposite chromosome) from a pathogenic variant.
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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