Total submissions: 3
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 |
RCV000049605 | SCV000082012 | probable-pathogenic | Neuronal ceroid lipofuscinosis 1 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |