ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.17G>T (p.Gly6Val)

dbSNP: rs954308263
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 RCV001326465 SCV001517496 uncertain significance Severe myoclonic epilepsy in infancy 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 6 of the SNX27 protein (p.Gly6Val). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1026063). This variant has not been reported in the literature in individuals affected with SNX27-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002546185 SCV003593255 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.17G>T (p.G6V) alteration is located in exon 1 (coding exon 1) of the SNX27 gene. This alteration results from a G to T substitution at nucleotide position 17, causing the glycine (G) at amino acid position 6 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227958 SCV003924161 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing SNX27 NM_030918.5 exon 1 p.Gly6Val (c.17G>T): This variant has not been reported in the literature but is present in 0.007% (3/41446) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-151612218-G-T?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. This variant is present in ClinVar (Variation ID:1026063). In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.