ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser)

gnomAD frequency: 0.00011  dbSNP: rs144641461
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244973 SCV001418230 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-04-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 651 of the DCLRE1C protein (p.Phe651Ser). This variant is present in population databases (rs144641461, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 969588). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227257 SCV002506230 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing The DCLRE1C c.1952T>C; p.Phe651Ser variant (rs144641461), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 969588). This variant is found in the general population with an overall allele frequency of 0.0057% (16/282548 alleles) in the Genome Aggregation Database. The phenylalanine at codon 651 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.213). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV001829943 SCV002090065 uncertain significance Athabaskan severe combined immunodeficiency 2020-10-21 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.