ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.760+5G>A

dbSNP: rs1555452262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598953 SCV000710420 uncertain significance not provided 2020-11-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV003767417 SCV004623830 uncertain significance Fanconi anemia 2023-12-15 criteria provided, single submitter clinical testing This sequence change falls in intron 3 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 not present in population databases (gnomAD no frequency). 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: 504113). 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.

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