Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734163 | SCV000862285 | uncertain significance | not provided | 2018-07-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485934 | SCV002793043 | uncertain significance | Niemann-Pick disease, type C1 | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002485934 | SCV003475940 | uncertain significance | Niemann-Pick disease, type C1 | 2022-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 30 of the NPC1 protein (p.Glu30Val). This variant is present in population databases (rs776166330, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with NPC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 597904). 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: "Possibly 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. |