ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.869G>A (p.Arg290His) (rs886037858)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000239673 SCV000950925 uncertain significance CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 290 of the NUS1 protein (p.Arg290His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with a glycosylation disorder in a family (PMID: 25066056). ClinVar contains an entry for this variant (Variation ID: 253197). Experimental studies have shown that this missense change results in a NUS1 protein with reduced cis-PTase activity (PMID: 25066056). 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.
OMIM RCV000239673 SCV000297998 pathogenic CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 2019-09-23 no assertion criteria provided literature only

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