ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.136G>T (p.Gly46Cys)

gnomAD frequency: 0.00001  dbSNP: rs775102823
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
GeneDx RCV000523521 SCV000620747 uncertain significance not provided 2024-02-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000807315 SCV000947362 uncertain significance Neuronal ceroid lipofuscinosis 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 95 of the CLN5 protein (p.Gly95Cys). This variant is present in population databases (rs775102823, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 451977). 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: "Possibly 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.
Genome-Nilou Lab RCV001272140 SCV002027056 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272140 SCV001453809 uncertain significance Neuronal ceroid lipofuscinosis 5 2020-09-16 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.