ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1433+1G>A

dbSNP: rs1829065047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863077 SCV002301462 likely pathogenic Fanconi anemia 2023-03-22 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 28717661). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: 929697). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 10 of the FANCG gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564).
Leiden Open Variation Database RCV001194963 SCV001364836 uncertain significance not provided 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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