Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001002022 | SCV000389409 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 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. |
| ARUP Laboratories, |
RCV001002022 | SCV001159845 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 2018-08-12 | criteria provided, single submitter | clinical testing | The TDP1 c.1799C>T; p.Thr600Met variant (rs772139596), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 314841). This variant is found in the general population with an overall allele frequency of 0.003% (8/277,104 alleles) in the Genome Aggregation Database. The threonine at codon 600 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Thr600Met variant is uncertain at this time. |
| Athena Diagnostics Inc | RCV002472988 | SCV002771169 | uncertain significance | not provided | 2022-07-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004021625 | SCV004963285 | uncertain significance | not specified | 2023-09-29 | criteria provided, single submitter | clinical testing | The c.1799C>T (p.T600M) alteration is located in exon 17 (coding exon 15) of the TDP1 gene. This alteration results from a C to T substitution at nucleotide position 1799, causing the threonine (T) at amino acid position 600 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |