Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000892626 | SCV004102822 | likely benign | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2023-11-14 | reviewed by expert panel | curation | The c.192G>A (p.Lys64=) variant (NM_000022.4) in ADA is a synonymous (silent) variant that is not predicted by SpliceAI and varSEAK to impact splicing (BP7). The highest population minor allele frequency in gnomAD v2.1.1 is 0.002796 (67/19946 alleles) in the East Asian population, which is higher than the ClinGen SCID VCEP threshold (>0.00161) for BS1 and therefore meets this criterion (BS1). In summary, this variant is classified as Likely Benign for autosomal recessive SCID based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP (specification version 1.0): BP7 and BS1. |
Invitae | RCV000892626 | SCV001036514 | benign | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000892626 | SCV001303125 | likely benign | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Genetic Services Laboratory, |
RCV001818676 | SCV002064926 | likely benign | not specified | 2020-07-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000892626 | SCV002808248 | likely benign | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2022-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003968149 | SCV004780917 | likely benign | ADA-related condition | 2020-12-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000892626 | SCV002095335 | likely benign | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2020-04-29 | no assertion criteria provided | clinical testing |