Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591666 | SCV000702354 | likely benign | not specified | 2017-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000828951 | SCV000970656 | likely benign | not provided | 2018-06-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002532384 | SCV002991712 | likely benign | Cornelia de Lange syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002532384 | SCV003815915 | uncertain significance | Cornelia de Lange syndrome 1 | 2021-03-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000591666 | SCV004099999 | likely benign | not specified | 2023-09-19 | criteria provided, single submitter | clinical testing | Variant summary: NIPBL c.5101T>C (p.Ser1701Pro) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 396030 control chromosomes (i.e., 49 heterozygotes), predominantly at a frequency of 0.00059 within the Latino subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance, however are not suggestive of a variant associated with highly-penetrant, early-onset, autosomal dominant disease. To our knowledge, no occurrence of c.5101T>C in individuals affected with Cornelia De Lange Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have reported clinical-significance assessments for this variant to ClinVar after 2014; three submitters classified the variant as likely benign, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign. |
Ce |
RCV000828951 | SCV004160893 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | NIPBL: BS1 |