ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) (rs1555207826)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685069 SCV000812541 uncertain significance Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 2018-07-11 criteria provided, single submitter clinical testing This sequence change affects codon 120 of the DPAGT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DPAGT1 protein. This variant is present in population databases (no RSID, ExAC 0.003%). This variant has been observed in combination with another DPAGT1 variant in an individual affected with congenital myasthenic syndrome (PMID: 24759841). Experimental studies have shown that this silent change results in aberrant splicing of the DPAGT1 primary transcript (PMID: 24759841). The observation of a missense substitution at this codon (p.Leu120Met) in affected individuals suggests that this may be a clinically significant residue (PMID: 22742743, 28662078). 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.

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