ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) (rs386833646)

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
Counsyl RCV000049605 SCV000800709 uncertain significance Neuronal ceroid lipofuscinosis 1 2018-05-18 criteria provided, single submitter clinical testing
Invitae RCV000049605 SCV001208999 uncertain significance Neuronal ceroid lipofuscinosis 1 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 138 of the PPT1 protein (p.Ser138Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs386833646, ExAC 0.03%). This variant has been observed in individual(s) with neuronal ceroid lipofuscinoses (PMID: 21990111). ClinVar contains an entry for this variant (Variation ID: 56194). 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 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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049605 SCV000082012 probable-pathogenic Neuronal ceroid lipofuscinosis 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.