ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln)

gnomAD frequency: 0.00013  dbSNP: rs200490683
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548586 SCV000646925 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2022-07-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 212 of the SLC39A13 protein (p.Arg212Gln). This variant is present in population databases (rs200490683, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with SLC39A13-related conditions. ClinVar contains an entry for this variant (Variation ID: 469535). 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508666 SCV001714977 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing
GeneDx RCV001508666 SCV001780848 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV000548586 SCV002793958 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2021-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024093 SCV004950678 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.635G>A (p.R212Q) alteration is located in exon 5 (coding exon 4) of the SLC39A13 gene. This alteration results from a G to A substitution at nucleotide position 635, causing the arginine (R) at amino acid position 212 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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