Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000983889 | SCV001131935 | likely benign | Charcot-Marie-Tooth disease axonal type 2P | 2023-12-01 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000983889 | SCV001329227 | likely benign | Charcot-Marie-Tooth disease axonal type 2P | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Mayo Clinic Laboratories, |
RCV002261248 | SCV002541014 | uncertain significance | not provided | 2021-09-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002372703 | SCV002685756 | uncertain significance | Inborn genetic diseases | 2020-11-12 | criteria provided, single submitter | clinical testing | The p.L306R variant (also known as c.917T>G), located in coding exon 12 of the LRSAM1 gene, results from a T to G substitution at nucleotide position 917. The leucine at codon 306 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant Charcot-Marie-Tooth disease, type 2P; however, its contribution to the development of autosomal recessive Charcot-Marie-Tooth disease, type 2P is uncertain. |