ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.930C>T (p.Gly310=) (rs745814294)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000496110 SCV001419212 uncertain significance Congenital disorder of deglycosylation 2020-07-13 criteria provided, single submitter clinical testing This sequence change affects codon 310 of the NGLY1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NGLY1 protein. This variant is present in population databases (rs745814294, ExAC 0.002%). This variant has been observed in a family affected with N-glycanase 1 deficiency (PMID: 25900930). ClinVar contains an entry for this variant (Variation ID: 221583). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health RCV000496110 SCV000259186 pathogenic Congenital disorder of deglycosylation 2016-01-07 no assertion criteria provided clinical testing
GeneReviews RCV000496110 SCV000891724 pathogenic Congenital disorder of deglycosylation 2017-08-25 no assertion criteria provided literature only Splice site variant. Mild impairment

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