ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1917G>T (p.Gly639=)

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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 RCV003637606 SCV004560656 uncertain significance Fanconi anemia 2024-01-19 criteria provided, single submitter clinical testing This sequence change affects codon 639 of the SLX4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLX4 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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