Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666286 | SCV000790552 | uncertain significance | Niemann-Pick disease type C1 | 2017-03-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825408 | SCV000966706 | uncertain significance | not specified | 2019-02-11 | criteria provided, single submitter | clinical testing | The p.Phe68del variant in NPC1 has not been previously reported in individuals with Niemann-Pick disease, type C and was absent from large population studies. This variant is a deletion of a moderately conserved amino acid at position 68 and is not predicted to alter the protein reading frame. It is unclear if the deletion will impact protein function. In summary, the clinical significance of the p.Phe68del variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4_Supporting. |