Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188212 | SCV000241819 | uncertain significance | not provided | 2023-04-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001082176 | SCV000636489 | likely benign | Lafora disease | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314733 | SCV000849203 | uncertain significance | Inborn genetic diseases | 2018-12-18 | criteria provided, single submitter | clinical testing | The p.V141A variant (also known as c.422T>C), located in coding exon 1 of the NHLRC1 gene, results from a T to C substitution at nucleotide position 422. The valine at codon 141 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well 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. |
Mayo Clinic Laboratories, |
RCV000188212 | SCV001715878 | uncertain significance | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing |