ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1560C>T (p.Gly520=)

gnomAD frequency: 0.00036  dbSNP: rs138477428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555424 SCV000654072 likely benign Congenital disorder of deglycosylation 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001562840 SCV001785671 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV003962585 SCV004785352 likely benign NGLY1-related condition 2019-04-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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