ClinVar Miner

Submissions for variant NM_022154.5(SLC39A8):c.1019T>A (rs864309659)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492852 SCV000582013 uncertain significance not provided 2017-05-09 criteria provided, single submitter clinical testing The I340N variant in the SLC39A8 gene has been reported previously in trans with another SLC39A8 variant in an individual with congenital disorder of glycosylation type IIn (Park et al., 2015). The I340N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I340N variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret I340N as a variant of uncertain significance.
OMIM RCV000203240 SCV000258311 pathogenic CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 2015-12-03 no assertion criteria provided literature only

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