Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Molecular Genetics Department, |
RCV001171635 | SCV001197997 | likely pathogenic | Niemann-Pick disease, type C1 | 2017-11-02 | criteria provided, single submitter | clinical testing | |
3billion | RCV001171635 | SCV005906094 | uncertain significance | Niemann-Pick disease, type C1 | 2023-12-07 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense variant In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.92 (>=0.6, sensitivity 0.68 and specificity 0.92); 3Cnet: 0.96 (>=0.6, sensitivity 0.72 and precision 0.9)]. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with NPC1-related disorder (ClinVar ID: VCV000834088 /PMID: 35614200). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline. |