ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.950+3G>T

gnomAD frequency: 0.00004  dbSNP: rs748822509
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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 RCV001297219 SCV001486226 uncertain significance Fanconi anemia 2023-11-08 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the SLX4 gene. It does not directly change the encoded amino acid sequence of the SLX4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs748822509, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1001002). 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. 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.
Sema4, Sema4 RCV001297219 SCV002529401 uncertain significance Fanconi anemia 2021-09-16 criteria provided, single submitter curation

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