ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) (rs375679649)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000327645 SCV000367726 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000444450 SCV000510915 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Athena Diagnostics Inc RCV000517176 SCV000613164 uncertain significance not specified 2016-09-07 criteria provided, single submitter clinical testing
Invitae RCV000529305 SCV000652718 uncertain significance Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 42 of the DPAGT1 protein (p.Cys42Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs375679649, ExAC 0.05%) but has not been reported in the literature in individuals with a DPAGT1-related disease. ClinVar contains an entry for this variant (Variation ID: 302751). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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