Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000239155 | SCV000296902 | uncertain significance | not specified | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000239155 | SCV000337834 | benign | not specified | 2015-12-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671674 | SCV000796671 | likely benign | Niemann-Pick disease, type C1 | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671674 | SCV001100526 | likely benign | Niemann-Pick disease, type C1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000239155 | SCV002500321 | likely benign | not specified | 2022-03-11 | criteria provided, single submitter | clinical testing | Variant summary: NPC1 c.2882A>G (p.Asn961Ser) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00085 in 251206 control chromosomes, predominantly at a frequency of 0.012 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 4 fold of the estimated maximal expected allele frequency for a pathogenic variant in NPC1 causing Niemann-Pick Disease Type C phenotype (0.0027), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS (n=1), benign (n=1) and likely benign (n=2). Based on the evidence outlined above, the variant was classified as likely benign. |
Natera, |
RCV000671674 | SCV002095179 | benign | Niemann-Pick disease, type C1 | 2019-10-31 | no assertion criteria provided | clinical testing |