Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671896 | SCV000796929 | likely pathogenic | Arginase deficiency | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671896 | SCV001584667 | pathogenic | Arginase deficiency | 2020-04-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ile11 amino acid residue in ARG1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7649538, 21310339, 22959135, 26310552, 29726057). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed to be homozygous in an individual affected with arginase deficiency (PMID: 29726057). ClinVar contains an entry for this variant (Variation ID: 555971). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the ARG1 mRNA. The next in-frame methionine is located at codon 200. |
Baylor Genetics | RCV000671896 | SCV003836211 | pathogenic | Arginase deficiency | 2022-02-24 | criteria provided, single submitter | clinical testing |