ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.370C>T (p.Gln124Ter) (rs587777323)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Courtagen Diagnostics Laboratory,Courtagen Life Sciences RCV000114956 SCV000236530 pathogenic Congenital disorder of glycosylation type 2B 2015-01-12 criteria provided, single submitter clinical testing
Invitae RCV000114956 SCV000959388 pathogenic Congenital disorder of glycosylation type 2B 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln124*) in the MOGS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs587777323, ExAC 0.003%). This variant has been observed in a family affected with MOGS-congenital disorder of glycosylation (PMID: 26805780). ClinVar contains an entry for this variant (Variation ID: 127098). Loss-of-function variants in MOGS are known to be pathogenic (PMID: 24716661, 26805780). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000114956 SCV000148866 pathogenic Congenital disorder of glycosylation type 2B 2014-04-24 no assertion criteria provided literature only

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