ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr)

gnomAD frequency: 0.00019  dbSNP: rs148022786
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000728594 SCV000618282 uncertain significance not provided 2020-11-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000638322 SCV000759816 uncertain significance Progressive myoclonic epilepsy 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 127 of the SCARB2 protein (p.Asp127Tyr). This variant is present in population databases (rs148022786, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with SCARB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 449847). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Eurofins Ntd Llc (ga) RCV000728594 SCV000856186 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336823 SCV001530321 uncertain significance Action myoclonus-renal failure syndrome 2018-03-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000728594 SCV001714115 uncertain significance not provided 2020-01-14 criteria provided, single submitter 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.