Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002044696 | SCV002116250 | pathogenic | Sengers syndrome; Cataract 38 | 2023-06-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1351396). This premature translational stop signal has been observed in individual(s) with Sengers syndrome (PMID: 22284826). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg138*) in the AGK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGK are known to be pathogenic (PMID: 22284826). |
| Ambry Genetics | RCV004616792 | SCV005118966 | pathogenic | Inborn genetic diseases | 2024-04-05 | criteria provided, single submitter | clinical testing | The c.412C>T (p.R138*) alteration, located in exon 7 (coding exon 6) of the AGK gene, consists of a C to T substitution at nucleotide position 412. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 138. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been identified in the homozygous state and/or in conjunction with other AGK variants in individuals with features consistent with Sengers syndrome (Mayr, 2012; Plutino, 2018). Based on the available evidence, this alteration is classified as pathogenic. |