Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597781 | SCV000704034 | uncertain significance | not provided | 2016-11-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001867940 | SCV002226653 | uncertain significance | Niemann-Pick disease, type C1 | 2021-11-15 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 866 of the NPC1 protein (p.Met866Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 498823). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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, |
RCV001867940 | SCV002799626 | uncertain significance | Niemann-Pick disease, type C1 | 2022-03-02 | criteria provided, single submitter | clinical testing |