ClinVar Miner

Submissions for variant NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) (rs950101299)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785949 SCV000924529 uncertain significance SLC39A8-CDG 2018-06-15 criteria provided, single submitter research The homozygous p.Cys113Arg variant was identified by our study in one individual with congenital disorder of glycosylation type IIn. This variant was absent from large population studies. The Cysteine (Cys) at position 113 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain.

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