Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517993 | SCV000615166 | uncertain significance | not specified | 2016-09-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000551603 | SCV000645239 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448560 | SCV002732420 | uncertain significance | Inborn genetic diseases | 2020-03-25 | criteria provided, single submitter | clinical testing | The p.H799Y variant (also known as c.2395C>T), located in coding exon 8 of the SETX gene, results from a C to T substitution at nucleotide position 2395. The histidine at codon 799 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and tyrosine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |