ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) (rs587777402)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119800 SCV001386315 pathogenic Congenital disorder of glycosylation type 1t 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 38 of the PGM1 protein (p.Asn38Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with PGM1-CDG in a family and has been observed in multiple individuals affected with PGM1-CDG (PMID: 24499211, 27206562, 26768186). ClinVar contains an entry for this variant (Variation ID: 133287). This variant has been reported to affect PGM1 protein function (PMID: 25288802). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000119800 SCV000154725 pathogenic Congenital disorder of glycosylation type 1t 2014-02-06 no assertion criteria provided literature only

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