Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516965 | SCV000615162 | uncertain significance | not specified | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001049138 | SCV001213172 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404330 | SCV002712528 | uncertain significance | Inborn genetic diseases | 2019-12-06 | criteria provided, single submitter | clinical testing | The p.H58Y variant (also known as c.172C>T), located in coding exon 1 of the SETX gene, results from a C to T substitution at nucleotide position 172. The histidine at codon 58 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly 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. |