ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly)

gnomAD frequency: 0.00009  dbSNP: rs146837290
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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 RCV000694396 SCV000822840 uncertain significance Fanconi anemia 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1304 of the SLX4 protein (p.Val1304Gly). This variant is present in population databases (rs146837290, gnomAD 0.01%). 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: 572889). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV003918132 SCV004735228 uncertain significance SLX4-related disorder 2024-02-13 no assertion criteria provided clinical testing The SLX4 c.3911T>G variant is predicted to result in the amino acid substitution p.Val1304Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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