Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189793 | SCV000243441 | uncertain significance | not provided | 2021-12-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV000764996 | SCV000896179 | uncertain significance | Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000189793 | SCV002396141 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390502 | SCV002709655 | uncertain significance | Inborn genetic diseases | 2018-04-25 | criteria provided, single submitter | clinical testing | The p.Q509R variant (also known as c.1526A>G), located in coding exon 12 of the TPP1 gene, results from an A to G substitution at nucleotide position 1526. The glutamine at codon 509 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine 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. |
Natera, |
RCV001274537 | SCV001458784 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2020-04-14 | no assertion criteria provided | clinical testing |