ClinVar Miner

Submissions for variant NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys) (rs34702903)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001027832 SCV000750141 likely benign Chédiak-Higashi syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000629223 SCV001147719 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027832 SCV001190452 uncertain significance Chédiak-Higashi syndrome 2019-08-07 criteria provided, single submitter clinical testing LYST NM_000081.3 exon 35 p.Asn2971Lys (c.8913T>G): This variant has been reported in the literature in at least 1 individual with cerebellar ataxia (Coutelier 2018 PMID:29482223). This variant is present in 0.4% (580/129120) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-235894366-A-C). This variant is present in ClinVar (Variation ID:525179). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV001027832 SCV001254392 uncertain significance Chédiak-Higashi syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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.