Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169010 | SCV000220151 | likely pathogenic | Niemann-Pick disease type C1 | 2014-03-07 | criteria provided, single submitter | literature only | |
EGL Genetic Diagnostics, |
RCV000728524 | SCV000856111 | pathogenic | not provided | 2017-08-18 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000781669 | SCV000919892 | pathogenic | Niemann-Pick disease, type C | 2017-12-29 | criteria provided, single submitter | clinical testing | Variant summary: The NPC1 c.2819C>T (p.Ser940Leu) variant involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 3/244918 control chromosomes (gnomAD) at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic NPC1 variant (0.0027735). Multiple publications have cited the variant in affected homozygote and compound heterozygote individuals. In addition, a clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic. |
Centre for Mendelian Genomics, |
RCV000169010 | SCV001369023 | pathogenic | Niemann-Pick disease type C1 | 2019-10-22 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PP3,PP5. |
Natera, |
RCV000169010 | SCV001453841 | pathogenic | Niemann-Pick disease type C1 | 2020-09-16 | no assertion criteria provided | clinical testing |