ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.667A>G (p.Ile223Val)

gnomAD frequency: 0.00005  dbSNP: rs201904265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000921878 SCV001067292 likely benign Congenital disorder of deglycosylation 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001558378 SCV001780313 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; 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.

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