ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) (rs1185483085)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623615 SCV000742429 pathogenic Inborn genetic diseases 2016-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000796580 SCV000936099 pathogenic Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 2018-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser133Alafs*64) in the DPAGT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DPAGT1-related disease. ClinVar contains an entry for this variant (Variation ID:521720). Loss-of-function variants in DPAGT1 are known to be pathogenic (PMID: 22742743). For these reasons, this variant has been classified as Pathogenic.

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