ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val)

gnomAD frequency: 0.00004  dbSNP: rs754558033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224949 SCV001397178 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 32 of the SLC39A13 protein (p.Gly32Val). This variant is present in population databases (rs754558033, gnomAD 0.006%). 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: 952775). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001575209 SCV001802158 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001575209 SCV004226165 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing BP4

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