Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702549 | SCV000831407 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001167523 | SCV001330030 | uncertain significance | Amyotrophic lateral sclerosis type 4 | 2018-01-12 | 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. |
Illumina Laboratory Services, |
RCV001167524 | SCV001330031 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2018-01-12 | 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. |
Athena Diagnostics Inc | RCV001662774 | SCV001880498 | uncertain significance | not provided | 2021-12-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662774 | SCV001988426 | uncertain significance | not provided | 2020-04-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Previously reported in an individual with ALS; however the variant was also identified in an informative unaffected relative (Muller et al., 2018); This variant is associated with the following publications: (PMID: 29650794) |
Ambry Genetics | RCV002386256 | SCV002696368 | uncertain significance | Inborn genetic diseases | 2019-09-18 | criteria provided, single submitter | clinical testing | The p.F458L variant (also known as c.1374T>G), located in coding exon 8 of the SETX gene, results from a T to G substitution at nucleotide position 1374. The phenylalanine at codon 458 is replaced by leucine, an amino acid with highly similar properties. This variant has been previously reported in one ALS patient; however, other clinical or variant details have not been provided (Müller K et al. J. Neurol. Neurosurg. Psychiatry, 2018 Aug;89:817-827). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain. |