Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001312939 | SCV001503414 | uncertain significance | Congenital disorder of deglycosylation | 2021-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with tyrosine at codon 297 of the NGLY1 protein (p.Asn297Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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, |
RCV002504477 | SCV002816522 | uncertain significance | Congenital disorder of deglycosylation 1 | 2021-10-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002543613 | SCV003580461 | uncertain significance | Inborn genetic diseases | 2021-11-16 | criteria provided, single submitter | clinical testing | The c.889A>T (p.N297Y) alteration is located in exon 6 (coding exon 6) of the NGLY1 gene. This alteration results from a A to T substitution at nucleotide position 889, causing the asparagine (N) at amino acid position 297 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |