ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser)

gnomAD frequency: 0.00001  dbSNP: rs746264976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046447 SCV001210351 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2022-05-13 criteria provided, single submitter clinical testing 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 193 of the SLC39A13 protein (p.Asn193Ser). This variant is present in population databases (rs746264976, gnomAD 0.02%). 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: 843758). 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.

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