ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4739+1G>T

gnomAD frequency: 0.00001  dbSNP: rs759186986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002012901 SCV002289857 likely pathogenic Fanconi anemia 2021-11-16 criteria provided, single submitter clinical testing 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. Disruption of this splice site has been observed in individual(s) with breast and/or ovarian cancer (PMID: 27913932). This variant is present in population databases (rs759186986, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 13 of the SLX4 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 SLX4 are known to be pathogenic (PMID: 21240277).

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