Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178763 | SCV000230917 | benign | not specified | 2014-09-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675465 | SCV000245330 | benign | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000178763 | SCV000303963 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000340409 | SCV000373334 | likely benign | Neuronal Ceroid-Lipofuscinosis, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000675465 | SCV000559667 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000675465 | SCV001146222 | benign | not provided | 2018-11-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000178763 | SCV002600697 | benign | not specified | 2022-10-24 | criteria provided, single submitter | clinical testing | Variant summary: TPP1 c.381-10dupT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0089 in 282666 control chromosomes, predominantly at a frequency of 0.089 within the African or African-American subpopulation in the gnomAD database, including 102 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 45 fold of the estimated maximal expected allele frequency for a pathogenic variant in TPP1 causing Neuronal Ceroid-Lipofuscinosis (Batten Disease) phenotype (0.002), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.381-10dupT in individuals affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease) and no experimental evidence demonstrating its impact on protein function have been reported. Seven ClinVar submitters (evaluation after 2014) cite the variant as benign (n=5), likely benign (n=1) and likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as benign. |
Mayo Clinic Laboratories, |
RCV000675465 | SCV000801152 | benign | not provided | 2017-08-30 | no assertion criteria provided | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV000678677 | SCV000803211 | likely pathogenic | Neuronal ceroid lipofuscinosis 2 | 2018-02-05 | no assertion criteria provided | clinical testing | The observed variant g.7024dupT was neither found in 1000 Genomes nor in ExAC databases. The in-silico prediction of the given variant is disease causing by MutationTaster2. |
Natera, |
RCV000678677 | SCV001459954 | benign | Neuronal ceroid lipofuscinosis 2 | 2020-09-16 | no assertion criteria provided | clinical testing |