ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)

dbSNP: rs1565766177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785093 SCV000923650 uncertain significance DPAGT1-congenital disorder of glycosylation 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785094 SCV000923651 uncertain significance Congenital myasthenic syndrome 13 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV002535718 SCV003317916 uncertain significance DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2022-02-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 634577). This variant has not been reported in the literature in individuals affected with DPAGT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 66 of the DPAGT1 protein (p.Phe66Ser).

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