ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2334C>T (p.Gly778=)

gnomAD frequency: 0.00001  dbSNP: rs1235572029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026684 SCV002316861 uncertain significance Fanconi anemia 2021-11-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change affects codon 778 of the SLX4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLX4 protein.

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