Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726905 | SCV000240625 | uncertain significance | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28492532) |
Eurofins Ntd Llc |
RCV000726905 | SCV000704082 | uncertain significance | not provided | 2017-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000698534 | SCV000827202 | uncertain significance | Neuronal ceroid lipofuscinosis | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 138 of the CLN5 protein (p.Asp138Asn). This variant is present in population databases (rs138110438, gnomAD 0.09%). 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: 205129). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CLN5 protein function with a negative predictive value of 80%. 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. |
Ambry Genetics | RCV002314702 | SCV000847655 | uncertain significance | Inborn genetic diseases | 2017-06-21 | criteria provided, single submitter | clinical testing | The p.D138N variant (also known as c.412G>A), located in coding exon 2 of the CLN5 gene, results from a G to A substitution at nucleotide position 412. The aspartic acid at codon 138 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved and asparagine is the reference amino acid in several species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Athena Diagnostics Inc | RCV000726905 | SCV001143614 | uncertain significance | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001272143 | SCV002027059 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001272143 | SCV002788355 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2021-10-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272143 | SCV001453812 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2020-09-16 | no assertion criteria provided | clinical testing |