ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)

dbSNP: rs387907243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001852609 SCV002300881 likely pathogenic DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2021-10-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 36918). This missense change has been observed in individual(s) with congenital myasthenic syndrome (PMID: 22742743). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 117 of the DPAGT1 protein (p.Val117Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.
OMIM RCV000030601 SCV000053279 pathogenic Congenital myasthenic syndrome 13 2012-07-13 no assertion criteria provided literature only

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