ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3902G>T (p.Gly1301Val)

dbSNP: rs1307466531
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822586 SCV002065408 uncertain significance not specified 2021-06-17 criteria provided, single submitter clinical testing This sequence change is absent from known population databases (gnomAD). The p.Gly1301Val change affects a poorly conserved amino acid residue located in a domain of the SLX4 protein that is not known to be functional. The p.Gly1301Val substitution appears to be tolerated using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in patients with SLX4-related disorders. Due to the lack of sufficient evidences, the clinical significance of the p.Gly1301Val change remains unknown at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869762 SCV002137574 uncertain significance Fanconi anemia 2021-03-12 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 1301 of the SLX4 protein (p.Gly1301Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine.

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