ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.107A>T (p.Glu36Val)

dbSNP: rs370082083
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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 RCV000458529 SCV000547483 uncertain significance Fanconi anemia 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 36 of the SLX4 protein (p.Glu36Val). This variant is present in population databases (rs370082083, gnomAD 0.007%). 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: 407940). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Genetic Services Laboratory, University of Chicago RCV001821257 SCV002066166 uncertain significance not specified 2020-11-19 criteria provided, single submitter clinical testing This sequence change does not appear to have been previously described in patients with SLX4-related disorders and has been described in the gnomAD database with a low population frequency of 0.0036% (dbSNP rs370082083). The p.Glu36Val change affects a poorly conserved amino acid residue located in a domain of the SLX4 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Glu36Val substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Glu36Val change remains unknown at this time.

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