ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) (rs28934876)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694750 SCV000823208 uncertain significance Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 170 of the DPAGT1 protein (p.Tyr170Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs28934876, ExAC 0.006%). This variant has been reported in an individual affected with congenital disorder of glycosylation 1J (CDG-Ij) (PMID: 12872255). This variant is also known as c.660A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 12296). Experimental studies have shown that this missense change results in a DPAGT1 protein with significantly reduced enzyme activity (PMID: 12872255). 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 RCV000013090 SCV000033336 pathogenic Congenital disorder of glycosylation type 1J 2003-08-01 no assertion criteria provided literature only

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