ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.285T>G (p.Asp95Glu)

dbSNP: rs747965676
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
Invitae RCV000706487 SCV000835541 uncertain significance Chédiak-Higashi syndrome 2022-09-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 95 of the LYST protein (p.Asp95Glu). This variant is present in population databases (rs747965676, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LYST-related conditions. ClinVar contains an entry for this variant (Variation ID: 582422). 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.
GeneDx RCV001759421 SCV001988169 uncertain significance not provided 2018-12-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263950 SCV002543618 uncertain significance Autoinflammatory syndrome 2020-07-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000706487 SCV003815212 uncertain significance Chédiak-Higashi syndrome 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392545 SCV004121157 uncertain significance LYST-related disorder 2023-06-27 criteria provided, single submitter clinical testing The LYST c.285T>G variant is predicted to result in the amino acid substitution p.Asp95Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-235973833-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.