ClinVar Miner

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

dbSNP: rs1185483085
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000796580 SCV000936099 pathogenic DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2022-02-20 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. Loss-of-function variants in DPAGT1 are known to be pathogenic (PMID: 22742743). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 521720). This premature translational stop signal has been observed in individual(s) with clinical features of DPAGT1-congenital disorder of glycosylation (PMID: 30117111). This variant is present in population databases (no rsID available, gnomAD 0.003%).
GeneDx RCV004722985 SCV005333036 likely pathogenic not provided 2024-03-26 criteria provided, single submitter clinical testing Observed in individuals with congenital disorder of glycosylation who had a second a pathogenic variant DPAGT1, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in all cases (PMID: 30117111); Observed with a second DPAGT1 variant in trans in an individual with childhood onset limb-girdle weakness (PMID: 38124360); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30117111, 33340551, 37766827, 38124360)
University of Washington Center for Mendelian Genomics, University of Washington RCV001291276 SCV001479717 likely pathogenic Congenital disorder of glycosylation no assertion criteria provided research

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