ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) (rs138544311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153164 SCV000202631 uncertain significance not provided 2014-04-07 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000537045 SCV000986767 not provided Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 12/09/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000332550 SCV000483224 likely benign Acute intermittent porphyria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537045 SCV000652721 uncertain significance Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 2018-06-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 332 of the DPAGT1 protein (p.Phe332Val). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is present in population databases (rs138544311, ExAC 0.2%). This variant has not been reported in the literature in individuals with DPAGT1-related disease. ClinVar contains an entry for this variant (Variation ID: 167007). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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