Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412209 | SCV000487311 | likely pathogenic | Niemann-Pick disease, type C1 | 2016-11-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003486822 | SCV004241990 | pathogenic | Niemann-Pick disease, type C | 2023-12-08 | criteria provided, single submitter | clinical testing | Variant summary: NPC1 c.1711delT (p.Tyr571IlefsX21) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251368 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1711delT in individuals affected with Niemann-Pick Disease Type C and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |