ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1084C>G (p.Pro362Ala)

dbSNP: rs1705801576
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313853 SCV001504361 uncertain significance Congenital disorder of deglycosylation 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 362 of the NGLY1 protein (p.Pro362Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NGLY1-related conditions. 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 disruptive. 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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