ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)

gnomAD frequency: 0.00001  dbSNP: rs752256415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343486 SCV001537473 uncertain significance Congenital disorder of deglycosylation 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 118 of the NGLY1 protein (p.Lys118Asn). This variant is present in population databases (rs752256415, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NGLY1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039922). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002486393 SCV002794228 uncertain significance Congenital disorder of deglycosylation 1 2022-01-15 criteria provided, single submitter clinical testing
GeneDx RCV003322883 SCV004028087 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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