Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795164 | SCV000934607 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002272358 | SCV002558285 | uncertain significance | not provided | 2022-01-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
MGZ Medical Genetics Center | RCV002290435 | SCV002580270 | uncertain significance | Amyotrophic lateral sclerosis type 4 | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334477 | SCV002635832 | uncertain significance | Inborn genetic diseases | 2021-04-08 | criteria provided, single submitter | clinical testing | The p.K1636E variant (also known as c.4906A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 4906. The lysine at codon 1636 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available 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. |