Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670699 | SCV000795589 | uncertain significance | Niemann-Pick disease, type C1 | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670699 | SCV000959043 | uncertain significance | Niemann-Pick disease, type C1 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 380 of the NPC1 protein (p.Leu380Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Niemann-Pick disease type C (PMID: 12955717). ClinVar contains an entry for this variant (Variation ID: 554968). 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: "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. |
Natera, |
RCV000670699 | SCV001455876 | uncertain significance | Niemann-Pick disease, type C1 | 2020-09-16 | no assertion criteria provided | clinical testing |