Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671937 | SCV000796978 | uncertain significance | Niemann-Pick disease type C1 | 2018-01-05 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000729488 | SCV000857156 | uncertain significance | not provided | 2017-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671937 | SCV001411764 | uncertain significance | Niemann-Pick disease type C1 | 2019-12-03 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 1187 of the NPC1 protein (p.Ala1187Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs113371321, ExAC 0.05%). This variant has been observed in an individual affected with Niemann-Pick type C (PMID: 19252935). ClinVar contains an entry for this variant (Variation ID: 556002). 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. |