Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000227251 | SCV000282686 | benign | Adenylosuccinate lyase deficiency | 2024-01-28 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000428118 | SCV000511988 | benign | not specified | 2015-07-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Baylor Genetics | RCV000227251 | SCV000807598 | uncertain significance | Adenylosuccinate lyase deficiency | 2017-09-01 | criteria provided, single submitter | clinical testing | This mutation has been seen once in our laboratory in trans with a nonsense mutation in a 2-year-old male with failure to thrive, short stature, problems with vomiting and hypoglycemia, postprandial hyperglycemia, and normal developmental milestones. Heterozygotes are expected to be asymptomatic carriers. |
| Athena Diagnostics | RCV000710484 | SCV000840715 | likely benign | not provided | 2018-03-08 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000227251 | SCV001308431 | uncertain significance | Adenylosuccinate lyase deficiency | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |