Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001224454 | SCV001396648 | uncertain significance | Chédiak-Higashi syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 252 of the LYST protein (p.Asn252Asp). This variant is present in population databases (rs369118576, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LYST-related conditions. ClinVar contains an entry for this variant (Variation ID: 952354). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV003259171 | SCV003979922 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.754A>G (p.N252D) alteration is located in exon 5 (coding exon 3) of the LYST gene. This alteration results from a A to G substitution at nucleotide position 754, causing the asparagine (N) at amino acid position 252 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |