Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189750 | SCV000243398 | uncertain significance | not provided | 2021-01-24 | criteria provided, single submitter | clinical testing | 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 |
Illumina Laboratory Services, |
RCV000341505 | SCV000373337 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Fulgent Genetics, |
RCV000765001 | SCV000896184 | uncertain significance | Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000189750 | SCV002324842 | likely benign | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000189750 | SCV002563061 | uncertain significance | not provided | 2020-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362994 | SCV002664749 | uncertain significance | Inborn genetic diseases | 2019-06-14 | criteria provided, single submitter | clinical testing | The p.G34D variant (also known as c.101G>A), located in coding exon 3 of the TPP1 gene, results from a G to A substitution at nucleotide position 101. The glycine at codon 34 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by BayesDel in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000341505 | SCV002094886 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2020-02-26 | no assertion criteria provided | clinical testing |